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MMACHC

MMACHC

Protein-coding gene in the species Homo sapiens

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

MMACHC

Cyanocobalamin

Form of vitamin B-12

The cyanide is converted to thiocyanate and excreted by the kidney. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the

Cyanocobalamin

Methylcobalamin

Form of vitamin B12

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

Methylcobalamin

Vitamin B12

Vitamin used in animal cell metabolism

Cai F, Zhang X, Xu X, Liu X, et al. (October 2019). "Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and

Vitamin B12

Vitamin_B12

Cyanocobalamin reductase (cyanide-eliminating)

enzymatic activity, MMACHC. This enzyme also has alkylcobalamin reductase activity. "Cyanocobalamin reductase / alkylcobalamin dealkylase (MMACHC, Human)". UniProt

Cyanocobalamin reductase (cyanide-eliminating)

Cyanocobalamin_reductase_(cyanide-eliminating)

List of genetic disorders

1:100,000-250,000 Methemoglobinemia Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive 1:48,000 Micro syndrome RAB3GAP (2q21.3)

List of genetic disorders

List_of_genetic_disorders

Methylmalonic acidemias

Medical condition

000,000 Childhood MLYCD 248360 Malonic aciduria <1:1,000,000 Childhood MMACHC, PRDX1 cblC 277400 Methylmalonic acidemia and homocystinuria, cblC type

Methylmalonic acidemias

Methylmalonic_acidemias

Methylmalonyl-CoA mutase

Mammalian protein found in Homo sapiens

AdoCbl via a GTP-reliant pathway. MMAA Vitamin B12 MeaB CoA-esters MMAB MMACHC MMADHC GRCh38: Ensembl release 89: ENSG00000146085 – Ensembl, May 2017 GRCm38:

Methylmalonyl-CoA mutase

Methylmalonyl-CoA_mutase

Cobalamin biosynthesis

Chemical reactions and pathways

(2009). "Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (CBLC) gene product". Molecular Genetics and Metabolism. 97 (4): 260–266

Cobalamin biosynthesis

Cobalamin_biosynthesis

List of human protein-coding genes 5

HGNC:7150; O95822 9640 MMAA HGNC:18871; Q8IVH4 9641 MMAB HGNC:19331; Q96EY8 9642 MMACHC HGNC:24525; Q9Y4U1 9643 MMADHC HGNC:25221; Q9H3L0 9644 MMD HGNC:7153; Q15546

List of human protein-coding genes 5

List_of_human_protein-coding_genes_5

Nicola Brasch

New Zealand chemistry academic

Jacobsen. "Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product." Molecular Genetics and Metabolism 97, no. 4 (2009):

Nicola Brasch

Nicola_Brasch

List of OMIM disorder codes

250940; MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25 Methylmalonic

List of OMIM disorder codes

List_of_OMIM_disorder_codes