MMACHC

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Results for "MMACHC": 1 gene, 6 gene sets

Name
MMACHC Gene methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
mmachc Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term mmachc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
MMACHC Gene Set From Pathway Commons Protein-Protein Interactions interacting proteins for MMACHC from the Pathway Commons Protein-Protein Interactions dataset.
MMACHC Gene Set From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the MMACHC gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
MMACHC Gene Set From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the MMACHC gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.
Defective MMACHC causes MAHCC Gene Set From Reactome Pathways 2024 proteins participating in the Defective MMACHC causes MAHCC pathway from the Reactome Pathways 2024 dataset.