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- Table of Contents
Facts about Methylmalonic aciduria and homocystinuria type D protein, mitochondrial.
Plays a role in regulating the ratio of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin jumped to MMACHC (PubMed:26364851).
Human | |
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Gene Name: | MMADHC |
Uniprot: | Q9H3L0 |
Entrez: | 27249 |
Belongs to: |
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No superfamily |
cblD; chromosome 2 open reading frame 25; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; mitochondrial; protein C2orf25, mitochondrial
Mass (kDA):
32.94 kDA
Human | |
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Location: | 2q23.2 |
Sequence: | 2; NC_000002.12 (149569637..149587775, complement) |
Widely expressed at high levels.
Cytoplasm. Mitochondrion.
PMID: 18385497 by Coelho D., et al. Gene identification for the cblD defect of vitamin B12 metabolism.
PMID: 21071249 by Plesa M., et al. Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism.