Species Human Entrez 27249 | Human Mouse Ensembl ENSG00000168288 | |
Aliases MMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type External IDs MGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC | ||
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.
Contents
Function
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.
Clinical significance
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.
References
MMADHC Wikipedia(Text) CC BY-SA