GDF-9 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009]

BMP15: May be involved in follicular development. Oocyte- specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth. Defects in BMP15 are the cause of ovarian dysgenesis type 2 (ODG2); also known as X-linked hypergonadotropic ovarian dysgenesis or hypergonadotropic ovarian failure due to ovarian dysgenesis. Ovarian dysgenesis leads to ovarian failure and accounts for about half of the cases of primary amenorrhea. Defects in BMP15 are the cause of premature ovarian failure type 4 (POF4). 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. Belongs to the TGF-beta family.

Protein type: Cytokine; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: Xp11.2

Cellular Component: extracellular space; cytoplasm

Molecular Function: growth factor activity; cytokine activity; transforming growth factor beta receptor binding

Biological Process: regulation of apoptosis; BMP signaling pathway; ovarian follicle development; granulosa cell development; regulation of MAPKKK cascade; positive regulation of transcription, DNA-dependent; female gamete generation; cell development

Disease: Ovarian Dysgenesis 2