- type C
protein (
MMACHC) is a
protein that in
humans is
encoded by the
MMACHC gene. The C-terminal
region of the
product of the
MMACHC gene is similar...
-
ingested is not used
directly as a cofactor, but is
first converted by
MMACHC into cob(II)alamin. Cob(II)alamin is then
later converted into the other...
- and
adenosylcobalamin are
commercially available as
supplement pills. The
MMACHC gene
product catalyzes the
decyanation of
cyanocobalamin as well as the...
- 1:100,000-250,000
Methemoglobinemia Methylmalonic acidemia MMAA, MMAB,
MMACHC, MMADHC, LMBRD1, MUT
recessive 1:48,000
Micro syndrome RAB3GAP (2q21.3)...
- 000,000
Childhood MLYCD 248360
Malonic aciduria <1:1,000,000
Childhood MMACHC, PRDX1 cblC 277400
Methylmalonic acidemia and homocystinuria, cblC type...
- HGNC:7150 O95822 9648 MMAA HGNC:18871 Q8IVH4 9649 MMAB HGNC:19331 Q96EY8 9650
MMACHC HGNC:24525 Q9Y4U1 9651
MMADHC HGNC:25221 Q9H3L0 9652 MMD HGNC:7153 Q15546...
-
AdoCbl via a GTP-reliant pathway. MMAA
Vitamin B12 MeaB CoA-esters MMAB
MMACHC MMADHC GRCh38:
Ensembl release 89: ENSG00000146085 – Ensembl, May 2017 GRCm38:...
- Jacobsen. "Processing of
alkylcobalamins in
mammalian cells: A role for the
MMACHC (cblC) gene product."
Molecular Genetics and
Metabolism 97, no. 4 (2009):...
- (2009). "Processing of
alkylcobalamins in
mammalian cells: A role for the
MMACHC (CBLC) gene product".
Molecular Genetics and Metabolism. 97 (4): 260–266...
- 250940; MTR
Methylmalonic aciduria and homocystinuria, cblC type; 277400;
MMACHC Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25 Methylmalonic...
