GENE NAME | TBC1D20 |
CHROMOSOME | 20 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000125875 |
UNIPROT ACCESSION NUMBER | Q96BZ9 |
GO MOLECULAR FUNCTION | ['small GTPase binding', 'protein binding', 'GTPase activator activity'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-199977; R-HSA-199991; R-HSA-204005; R-HSA-392499; R-HSA-446203; R-HSA-5653656; R-HSA-597592; R-HSA-8854214; R-HSA-9007101; R-HSA-948021 |
1 combination linked to TBC1D20 | OLI1383 |
1 variant linked to TBC1D20 | TBC1D20:c.1016T>C, p.Met339Thr |
1 disease linked to TBC1D20 | Hypogonadotropic hypogonadism with Fertile Eunuch phenotype |