MMACHC

MMACHC
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3SBY, 3SBZ, 3SC0, 3SOM
Identifiers
Aliases	MMACHC, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, metabolism of cobalamin associated C
External IDs	OMIM: 609831; MGI: 1914346; HomoloGene: 12082; GeneCards: MMACHC; OMA:MMACHC - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	45,513,382 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	116,565,603 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; muscle of thigh; ; stromal cell of endometrium; ; ventricular zone; ; mucosa of transverse colon; ; testicle; ; right auricle; ; left ventricle; ; prefrontal cortex; ; right adrenal gland;
	Top expressed in
	myocardium of ventricle; ; sternocleidomastoid muscle; ; soleus muscle; ; digastric muscle; ; temporal muscle; ; tibialis anterior muscle; ; triceps brachii muscle; ; vastus lateralis muscle; ; extraocular muscle; ; gastrocnemius muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	cobalamin binding; protein binding; FAD binding; demethylase activity; protein homodimerization activity; glutathione binding; cyanocobalamin reductase (cyanide-eliminating) activity; oxidoreductase activity;
Cellular component	cytosol; cytoplasm;
Biological process	demethylation; glutathione metabolic process; cobalamin biosynthetic process; cobalamin metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	25974
	67096
	ENSG00000132763
	ENSMUSG00000028690
	Q9Y4U1
	Q9CZD0
	NM_015506; NM_001330540
	NM_025962
	NP_001317469; NP_056321
	NP_080238
	Wikidata
View/Edit Human	View/Edit Mouse

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132763 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028690 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. S2CID 7688576.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132763 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028690 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16311595-5] Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. S2CID 7688576.

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