Protein Name metabolism of cobalamin associated D
Organism Homo sapiens
Gene ID 27249
Gene Symbol

MMADHC

UniProt Q9H3L0 (MMAD_HUMAN)
Relationships Total Number of functionally related compound(s) : 15
Total Number of Articles : 26
Description

metabolism of cobalamin associated D

Gene Summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

synonyms
  • cobalamin trafficking protein CblD
  • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
  • methylmalonic aciduria and homocystinuria type D protein, mitochondrial
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Properties