MMACHC report

I. Expression across cell types

Insufficient scRNA-seq data for expression of MMACHC at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MMACHC at tissue level.

III. Associated gene sets

GO_0070988Biological processdemethylation
GO_0009235Biological processcobalamin metabolic process
GO_0006749Biological processglutathione metabolic process
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0043295Molecular functionglutathione binding
GO_0016740Molecular functiontransferase activity
GO_0031419Molecular functioncobalamin binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0071949Molecular functionFAD binding
GO_0016491Molecular functionoxidoreductase activity
GO_0033787Molecular functioncyanocobalamin reductase (cyanide-eliminating) (NADP+) activity
GO_0032451Molecular functiondemethylase activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMMACHC
Protein nameCyanocobalamin reductase / alkylcobalamin dealkylase (EC 1.16.1.6) (EC 2.5.1.151) (Alkylcobalamin:glutathione S-alkyltransferase) (CblC) (Cyanocobalamin reductase (cyanide-eliminating)) (Methylmalonic aciduria and homocystinuria type C protein)
Cyanocobalamin reductase / alkylcobalamin dealkylase (Alkylcobalamin:glutathione S-alkyltransferase) (EC 2.5.1.151) (CblC) (Cyanocobalamin reductase (cyanide-eliminating)) (EC 1.16.1.6) (Methylmalonic aciduria and homocystinuria type C protein) (MMACHC)
Synonyms
DescriptionFUNCTION: Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate . Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle . Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol . The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine . Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether . The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors . Cysteine and homocysteine cannot substitute for glutathione in this reaction . .

AccessionsQ9Y4U1
ENST00000401061.9
ENST00000616135.1
A0A0C4DGU2