Aliases for GDF9 Gene
External Ids for GDF9 Gene
Previous GeneCards Identifiers for GDF9 Gene
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]
GeneCards Summary for GDF9 Gene
GDF9 (Growth Differentiation Factor 9) is a Protein Coding gene. Diseases associated with GDF9 include Premature Ovarian Failure 14 and Mitochondrial Complex Iii Deficiency, Nuclear Type 4. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP15.
UniProtKB/Swiss-Prot Summary for GDF9 Gene
Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells.