MMUT (methylmalonyl-CoA mutase)

2014-11-01  

Identity

HGNC
MMUT
LOCATION
6p12.3
LOCUSID
4594
ALIAS
MCM,MUT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4594
MIM: 609058
HGNC: 7526
Ensembl: ENSG00000146085

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146085ENST00000274813P22033
ENSG00000146085ENST00000274813A0A024RD82

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Glyoxylate and dicarboxylate metabolismKEGGko00630
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGhsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGM00741
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective MMAA causes methylmalonic aciduria type cblAREACTOMER-HSA-3359475
Defective MUT causes methylmalonic aciduria mut typeREACTOMER-HSA-3359478
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
Propionyl-CoA catabolismREACTOMER-HSA-71032
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

References

Pubmed IDYearTitleCitations
381288192024Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.0
381288192024Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.0
326594432021Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase.7
327549202021Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.12
334134712021A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.3
337412722021A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.8
346686452021Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.5
326594432021Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase.7
327549202021Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.12
334134712021A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.3
337412722021A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.8
346686452021Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.5
320138892020Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.3
326798192020Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.18
320138892020Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.3

Citation

Dessen P

MMUT (methylmalonyl-CoA mutase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70586/mmut-(methylmalonyl-coa-mutase)