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
Other Information
Locus ID:
NCBI: 4594
MIM: 609058
HGNC: 7526
Ensembl: ENSG00000146085
Variants:
dbSNP: 4594
ClinVar: 4594
TCGA: ENSG00000146085
COSMIC: MMUT
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000146085 | ENST00000274813 | P22033 |
| ENSG00000146085 | ENST00000274813 | A0A024RD82 |
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38128819 | 2024 | Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population. | 0 |
| 38128819 | 2024 | Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population. | 0 |
| 32659443 | 2021 | Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase. | 7 |
| 32754920 | 2021 | Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. | 12 |
| 33413471 | 2021 | A 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 |
| 33741272 | 2021 | A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. | 8 |
| 34668645 | 2021 | Different 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 |
| 32659443 | 2021 | Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase. | 7 |
| 32754920 | 2021 | Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. | 12 |
| 33413471 | 2021 | A 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 |
| 33741272 | 2021 | A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. | 8 |
| 34668645 | 2021 | Different 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 |
| 32013889 | 2020 | Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. | 3 |
| 32679819 | 2020 | Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress. | 18 |
| 32013889 | 2020 | Pre-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)
