This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Methylmalonic aciduria and homocystinuria type C protein.
Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).
| Human | |
|---|---|
| Gene Name: | MMACHC |
| Uniprot: | Q9Y4U1 |
| Entrez: | 25974 |

| Belongs to: |
|---|
| MMACHC family |

cblC; DKFZP564I122; FLJ25671; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduria and homocystinuria type C protein; RP11-291L19.3
Mass (kDA):
31.728 kDA

| Human | |
|---|---|
| Location: | 1p34.1 |
| Sequence: | 1; NC_000001.11 (45500229..45513382) |
Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.
Cytoplasm.





PMID: 19801555 by Kim J., et al. A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.
PMID: 19700356 by Froese D.S., et al. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.