GENE NAME | MASTL |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000120539 |
ENTREZ ID | 84930 |
UNIPROT ACCESSION NUMBER | Q96GX5 |
GO MOLECULAR FUNCTION | protein serine/threonine kinase activity; protein phosphatase 2A binding; protein serine kinase activity; ATP binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1640170; R-HSA-68875; R-HSA-69278; R-HSA-2465910; R-HSA-68886 |
1 combination linked to MASTL | OLI423 |
1 variant linked to MASTL | MASTL:c.170C>T, p.Met1extMet-57 |
1 disease linked to MASTL | Normosmic congenital hypogonadotropic hypogonadism |