Name

MMADHC Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

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]

mmadhc Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term mmadhc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

MMADHC Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for MMADHC from the Pathway Commons Protein-Protein Interactions dataset.

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

From Reactome Pathways

proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.