MMADHC, metabolism of cobalamin associated D

MMADHC, metabolism of cobalamin associated D

• 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]

• Gene Synonyms (cobalamin trafficking protein CblD, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, methylmalonic aciduria and homocystinuria type D protein, mitochondrial, protein C2orf25, mitochondrial, C2orf25, CL25022, cblD,)
• NCBI Gene ID: 27249
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9H3L0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

metabolism of cobalamin associated D interacts with:

• aurora kinase A interacting protein 1
  CDGSH iron sulfur domain 3
  chromosome 1 open reading frame 94
  chromosome 9 open reading frame 24
  cyclin dependent kinase 2 interacting protein
  kinesin family member 12
  mitochondrial ribosomal protein S24
  NADH:ubiquinone oxidoreductase core subunit S7
  polyamine modulated factor 1 binding protein 1
  RAS like family 10 member B
  TBC1 domain family member 7
  transmembrane p24 trafficking protein 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.