Details for Gene GDF9

GENE NAME GDF9
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000164404
UNIPROT ACCESSION NUMBER O60383
GO MOLECULAR FUNCTION ['type I activin receptor binding', 'cytokine activity', 'growth factor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04060
4 combinations linked to GDF9 OLI090; OLI1060; OLI1724; OLI094
5 variants linked to GDF9 GDF9:c.1360C>T, p.Arg454Cys; GDF9:c.307C>T, p.Pro103Ser; GDF9:c.278A>G, p.Tyr93Cys; GDF9:c.1121C>T, p.Pro374Leu; GDF9:c.1283G>C, p.Ser428Thr
1 disease linked to GDF9 Primary ovarian failure

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