Recombinant Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)

Uniprot Id

Q9H3L0

Target Species

Human

Target Name

MMADHC

Target Full Name

Cobalamin trafficking protein CblD

Target Function

Involved in cobalamin metabolism and trafficking. Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl). Promotes oxidation of cob(II)alamin bound to MMACHC. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine.

Target Involvement

Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)

Target Subcellular Location

Cytoplasm. Mitochondrion.

Target Tissue Specificity

Widely expressed at high levels.

Target Synonyms

C2orf25; cblD ; Chromosome 2 open reading frame 25; CL25022 ; Methylmalonic aciduria (cobalamin deficiency) cblD type; with homocystinuria ; Methylmalonic aciduria and homocystinuria type D protein; methylmalonic aciduria and homocystinuria type D protein; mitochondrial; mitochondrial; MMAD_HUMAN; Mmadhc; Protein C2orf25; mitochondrial

Target Background

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.