GDAP1 Gene

Name	ganglioside induced differentiation associated protein 1
Description	This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GDAP1 is a mitochondrial outer membrane protein that plays a critical role in regulating mitochondrial dynamics, in particular by promoting fission, as well as in coordinating peroxisomal division. Studies show that GDAP1 is predominantly expressed in neurons, where it localizes to mitochondria—and, to a lesser extent, peroxisomes—and participates in maintaining the integrity of the mitochondrial‐network."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Its function as a fission factor is underscored by biochemical studies demonstrating that the protein’s correct targeting to the outer mitochondrial membrane – which depends on a C‐terminal transmembrane domain and adjacent basic residues – is essential for its role in mitochondrial fragmentation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Although GDAP1 shares structural motifs with glutathione S‐transferases, it does not exhibit GST enzymatic activity, suggesting that its structure rather than catalytic function is important for its role in cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Mutations in GDAP1 are a well‐established cause of various forms of Charcot–Marie–Tooth (CMT) neuropathy. Recessively inherited mutations are typically associated with reduced fission activity and a severe, early‐onset phenotype, whereas dominantly inherited mutations often impair mitochondrial fusion, leading to mitochondrial damage, increased production of reactive oxygen species, and a milder clinical profile with later onset."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": " In addition, GDAP1 influences intracellular calcium homeostasis and redox balance; for example, its upregulation protects against oxidative stress by supporting cellular glutathione levels and preserving mitochondrial membrane potential, while deficiency leads to abnormal mitochondrial morphology, impaired calcium influx through store‐operated channels, and ultimately axonal degeneration."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, functional studies indicate that GDAP1 may interact with vesicle–organelle trafficking proteins and contribute to the formation of membrane contact sites between mitochondria and lysosomes—processes that are important for autophagic flux and mitochondrial quality control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": " Collectively, these findings establish GDAP1 as a key regulator of mitochondrial and peroxisomal dynamics whose dysfunction disrupts energy metabolism, calcium signaling, and redox balance, thereby contributing to peripheral axonal degeneration in CMT neuropathies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": " \n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laia Pedrola, Antonio Espert, Xingyao Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi121"}], "href": "https://doi.org/10.1093/hmg/ddi121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15772096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15772096"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Laia Pedrola, Antonio Espert, Teresa Valdés-Sánchez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1582-4934.2007.00158.x"}], "href": "https://doi.org/10.1111/j.1582-4934.2007.00158.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18021315"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18021315"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nina Huber, Sofia Guimaraes, Michael Schrader, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/embor.2013.56"}], "href": "https://doi.org/10.1038/embor.2013.56"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23628762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23628762"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Axel Niemann, Konstanze Marion Wagner, Marcel Ruegg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2009.09.011"}], "href": "https://doi.org/10.1016/j.nbd.2009.09.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19782751"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19782751"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Konstanze M Wagner, Marcel Rüegg, Axel Niemann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0005160"}], "href": "https://doi.org/10.1371/journal.pone.0005160"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19340293"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19340293"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alison J Shield, Tracy P Murray, Philip G Board "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2006.06.189"}], "href": "https://doi.org/10.1016/j.bbrc.2006.06.189"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16857173"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16857173"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "E Nelis, S Erdem, P Y K Van Den Bergh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000036272.36047.54"}], "href": "https://doi.org/10.1212/01.wnl.0000036272.36047.54"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12499475"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12499475"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ki Wha Chung, Seung Min Kim, Il Nam Sunwoo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-008-0249-3"}], "href": "https://doi.org/10.1007/s10038-008-0249-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18231710"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18231710"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "C Crimella, A Tonelli, G Airoldi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2010.077909"}], "href": "https://doi.org/10.1136/jmg.2010.077909"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20685671"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20685671"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "David Pla-Martín, Carlos B Rueda, Anna Estela, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2013.03.010"}], "href": "https://doi.org/10.1016/j.nbd.2013.03.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23542510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23542510"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Rebecca Noack, Svenja Frede, Philipp Albrecht, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr450"}], "href": "https://doi.org/10.1093/hmg/ddr450"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21965300"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21965300"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Manuela Barneo-Muñoz, Paula Juárez, Azahara Civera-Tregón, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1005115"}], "href": "https://doi.org/10.1371/journal.pgen.1005115"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25860513"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25860513"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Lara Cantarero, Elena Juárez-Escoto, Azahara Civera-Tregón, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddaa243"}], "href": "https://doi.org/10.1093/hmg/ddaa243"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33372681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33372681"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Neurol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.expneurol.2010.09.006"}], "href": "https://doi.org/10.1016/j.expneurol.2010.09.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20849849"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20849849"}]}]}]}
Synonyms	CMTRIA, CMT4A, CMT4
Proteins	GDAP1_HUMAN
NCBI Gene ID	54332
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GDAP1 has 6,332 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 122 datasets.

Click the + buttons to view associations for GDAP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GDAP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GDAP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GDAP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GDAP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GDAP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GDAP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GDAP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GDAP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GDAP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of GDAP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GDAP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GDAP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GDAP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GDAP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GDAP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GDAP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GDAP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with GDAP1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with GDAP1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing GDAP1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GDAP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GDAP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GDAP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing GDAP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing GDAP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GDAP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GDAP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of GDAP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GDAP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GDAP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GDAP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with GDAP1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of GDAP1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GDAP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving GDAP1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GDAP1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with GDAP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GDAP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GDAP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GDAP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GDAP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.