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- 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 | |
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Gene Name: | MMACHC |
Uniprot: | Q9Y4U1 |
Entrez: | 25974 |
Belongs to: |
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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 | |
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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.