GDF9
Function
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.
Involvement in disease
Altered GDF9 function may be involved in ovarian disorders and contribute to the likelihood of dizygotic twinning.
Premature ovarian failure 14
POF14
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325.
Sequence Similarities
Belongs to the TGF-beta family.
Tissue Specificity
Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level).
Cellular localization
- Secreted
Alternative names
Growth/differentiation factor 9, GDF-9, GDF9