GENE NAME | TIMM50 |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000105197 |
ENTREZ ID | 92609 |
UNIPROT ACCESSION NUMBER | Q3ZCQ8 |
GO MOLECULAR FUNCTION | phosphoprotein phosphatase activity; RNA binding; interleukin-2 receptor binding; protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1268020; R-HSA-9609507 |
1 combination linked to TIMM50 | OLI806 |
1 variant linked to TIMM50 | TIMM50:p.Arg342Trp |
1 disease linked to TIMM50 | Recurrent exertional rhabdomyolysis |