Details for Gene TBC1D20

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

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