MMUT (methylmalonyl-CoA mutase)

2014-11-01 Affiliation

HGNC

MMUT

LOCATION

6p12.3

LOCUSID

4594

ALIAS

MCM,MUT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 4594
ClinVar: 4594
TCGA: ENSG00000146085
COSMIC: MMUT

Gene ID	Transcript ID	Uniprot
ENSG00000146085	ENST00000274813	P22033
ENSG00000146085	ENST00000274813	A0A024RD82

Pathway	Source	External ID
Valine, leucine and isoleucine degradation	KEGG	ko00280
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
Propanoate metabolism	KEGG	ko00640
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
Propanoate metabolism	KEGG	hsa00640
Metabolic pathways	KEGG	hsa01100
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA	KEGG	hsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA	KEGG	M00741
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in cobalamin (B12) metabolism	REACTOME	R-HSA-3296469
Defective MMAA causes methylmalonic aciduria type cblA	REACTOME	R-HSA-3359475
Defective MUT causes methylmalonic aciduria mut type	REACTOME	R-HSA-3359478
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Mitochondrial Fatty Acid Beta-Oxidation	REACTOME	R-HSA-77289
Propionyl-CoA catabolism	REACTOME	R-HSA-71032
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolism	REACTOME	R-HSA-196741

Pubmed ID	Year	Title	Citations
20031578	2009	Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.	54
20031578	2009	Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.	54
19088183	2009	Mitochondrial dysfunction in mut methylmalonic acidemia.	49
17597648	2007	Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).	45
20876572	2010	Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.	35
16281286	2006	Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.	31
17728257	2007	Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.	24
15643616	2005	Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.	23
17966092	2007	Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17

Dessen P

MMUT (methylmalonyl-CoA mutase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01