| Name | CDP-L-ribitol pyrophosphorylase A |
| Description | This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CRPPA, also known as the isoprenoid synthase domain‐containing protein (ISPD), plays a central role in the post‐translational glycosylation of α‐dystroglycan. Acting as a CDP‐ribitol synthase, CRPPA catalyzes the formation of cytidine diphosphate–ribitol (CDP‐Rbo), which serves as an essential donor substrate for the subsequent addition of ribitol phosphate moieties onto α‐dystroglycan. This modification is critical for establishing the unique laminin‐binding glycan that maintains muscle membrane integrity and proper neural development. Disruption of CRPPA function, through genetic mutations, interrupts early O‐mannosylation steps and leads to a spectrum of dystroglycanopathies—from the severe Walker–Warburg syndrome to milder forms of congenital or limb–girdle muscular dystrophy—often accompanied by brain, eye, or axonal guidance defects."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In vivo studies further demonstrate that adequate CRPPA activity is indispensable not only for muscle fiber integrity but also for proper axon guidance and laminin localization, highlighting its broader developmental relevance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, reduced expression of CRPPA has been associated with compromised glycosylation of α–dystroglycan in diseases such as clear cell renal cell carcinoma, underscoring its significance in both neuromuscular and oncologic contexts."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Rare mutations in CRPPA have been identified in patient cohorts with limb–girdle muscular dystrophy, and preliminary therapeutic approaches aimed at supplementing its enzymatic product have shown partial restoration of α–dystroglycan glycosylation in cellular models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings emphasize that CRPPA is a key enzyme whose proper function is required for the assembly of a functional glycan on α–dystroglycan, thus ensuring effective extracellular matrix interactions and normal tissue architecture.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tobias Willer, Hane Lee, Mark Lommel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2252"}], "href": "https://doi.org/10.1038/ng.2252"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22522420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22522420"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2253"}], "href": "https://doi.org/10.1038/ng.2253"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22522421"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22522421"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Motoi Kanagawa, Kazuhiro Kobayashi, Michiko Tajiri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2016.02.017"}], "href": "https://doi.org/10.1016/j.celrep.2016.02.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26923585"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26923585"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Isabelle Gerin, Benoît Ury, Isabelle Breloy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms11534"}], "href": "https://doi.org/10.1038/ncomms11534"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27194101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27194101"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jeremy L Praissman, Tobias Willer, M Osman Sheikh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.14473"}], "href": "https://doi.org/10.7554/eLife.14473"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27130732"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27130732"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/aws312"}], "href": "https://doi.org/10.1093/brain/aws312"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23288328"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23288328"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Evan G Williams, Laurent Mouchiroud, Michael Frochaux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An evolutionarily conserved role for the aryl hydrocarbon receptor in the regulation of movement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1004673"}], "href": "https://doi.org/10.1371/journal.pgen.1004673"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25255223"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25255223"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Francesca Magri, Irene Colombo, Roberto Del Bo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12883-015-0428-8"}], "href": "https://doi.org/10.1186/s12883-015-0428-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26404900"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26404900"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Motoi Kanagawa, Tatsushi Toda "}, {"type": "b", "children": [{"type": "t", "text": "Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neuromuscul Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/JND-170255"}], "href": "https://doi.org/10.3233/JND-170255"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29081423"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29081423"}]}]}]}
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| NCBI Gene ID | 729920 |
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| Expression in Tissues and Cell Lines |
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CRPPA has 1,501 functional associations with biological entities spanning 6 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 32 datasets.
Click the + buttons to view associations for CRPPA from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CRPPA gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with CRPPA gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CRPPA gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with CRPPA gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of CRPPA gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing CRPPA protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CRPPA protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of CRPPA protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving CRPPA gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CRPPA gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with CRPPA gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving CRPPA gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving CRPPA gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by CRPPA gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by CRPPA gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of CRPPA gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of CRPPA gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with CRPPA gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by CRPPA gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of CRPPA gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of CRPPA gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving CRPPA protein from the KEGG Pathways 2026 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by CRPPA gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of CRPPA gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving CRPPA protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of CRPPA gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CRPPA gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CRPPA gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of CRPPA gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of CRPPA gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CRPPA protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with CRPPA protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
