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
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; ; stromal cell of endometrium; ; left ventricle; ; prefrontal cortex; ; right adrenal gland; ; gastrocnemius muscle; ; rectum; ; left adrenal gland; ; ganglionic eminence; ; islet of Langerhans;
	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.

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