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: 84693
MIM: 608419
HGNC: 16732
Ensembl: ENSG00000124370
Variants:
dbSNP: 84693
ClinVar: 84693
TCGA: ENSG00000124370
COSMIC: MCEE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124370 | ENST00000244217 | Q96PE7 |
| ENSG00000124370 | ENST00000413592 | H7BZS7 |
| ENSG00000124370 | ENST00000486135 | F5GZ54 |
| ENSG00000124370 | ENST00000494660 | F5GZ54 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30682498 | 2019 | Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. | 9 |
| 30682498 | 2019 | Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. | 9 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 17823972 | 2007 | Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). | 12 |
| 17823972 | 2007 | Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). | 12 |
Citation
Dessen P
MCEE (methylmalonyl-CoA epimerase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68842/mcee-(methylmalonyl-coa-epimerase)
