Logo
full name
methylmalonyl-CoA mutase

synonyms
MCM, MUT, ENSG00000146085

HGNC
HGNC:7526

Entrez Gene
Gene:4594

ENSEMBL
ENSG00000146085

location
chr: 6
start: 49398073
stop: 49431041
strand: -

OMIM
OMIM:609058: MUT (Autosomal recessive inheritance)
OMIM:251000: Methylmalonic aciduria, mut(0) type

transcripts
NM_000255.3

pathways
Carbon metabolism [NCBI:814926] [KEGG:hsa01200]
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Defective MMAA causes methylmalonic aciduria type cblA [NCBI:1268971] [REACTOME:R-HSA-3359475] [PUBMED:15523652] [PUBMED:12438653]
Defective MUT causes methylmalonic aciduria mut type [NCBI:1268972] [REACTOME:R-HSA-3359478] [PUBMED:16281286]
Defects in cobalamin (B12) metabolism [NCBI:1268960] [REACTOME:R-HSA-3296469] [PUBMED:21312325] [PUBMED:16846473] [PUBMED:9587028] [PUBMED:21114891] [PUBMED:22547309]
Defects in vitamin and cofactor metabolism [NCBI:1268959] [REACTOME:R-HSA-3296482]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Glyoxylate and dicarboxylate metabolism [NCBI:83002] [KEGG:hsa00630] [PUBMED:10978349] [PUBMED:16407450] [PUBMED:11513957] [PUBMED:18065535] [PUBMED:21252347] [PUBMED:9596633] [PUBMED:18819910]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Mitochondrial Fatty Acid Beta-Oxidation [NCBI:1270015] [REACTOME:R-HSA-77289] [PUBMED:10527676] [PUBMED:11826276] [PUBMED:7951672] [PUBMED:1431593]
Propanoate metabolism [NCBI:83004] [KEGG:hsa00640]
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA [NCBI:1239574] [KEGG:hsa_M00741]
Propionyl-CoA catabolism [NCBI:1270025] [REACTOME:R-HSA-71032]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]