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MMACHC

Description metabolism of cobalamin associated C
Image
GO Annotations Cellular Component
  • Cytoplasm
  • Cytosol
Molecular Function
  • Protein Binding
  • Oxidoreductase Activity
  • Transferase Activity
  • Cobalamin Binding
  • Demethylase Activity
  • Cyanocobalamin Reductase (cyanide-eliminating) Activity
  • Protein Homodimerization Activity
  • Glutathione Binding
  • FAD Binding
Biological Process
  • Glutathione Metabolic Process
  • Cobalamin Metabolic Process
  • Demethylation
Pathways
  • Cobalamin (Cbl, vitamin B12) transport and metabolism
  • Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
  • Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
Drugs
  • Cyanocobalamin
  • Hydroxocobalamin
Diseases
GWAS
  • Blood protein levels ( 28240269)
  • Homocysteine levels ( 23824729)
Interacting Genes 2 interacting genes: KDM4A MMADHC
Entrez ID 25974
HPRD ID 18585
Ensembl ID ENSG00000132763
Uniprot IDs A0A0C4DGU2 Q9Y4U1
PDB IDs 3SBY 3SBZ 3SC0 3SOM 5UOS
Enriched GO Terms of Interacting Partners?
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© Madhavi K. Ganapathiraju 2012-2025