BMP15, GDF9B, Bone morphogenetic protein 15, BMP-15, Growth/differentiation factor 9B, GDF-9B
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 subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016],disease:Defects in BMP15 are the cause of ovarian dysgenesis 2 (ODG2) [MIM:300510], also called X-linked hypergonadotropic ovarian dysgenesis or hypergonadotropic ovarian failure due to ovarian dysgenesis. Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis (OD) or ovarian defective development. OD accounts for about half of the cases of primary amenorrhea.,function:May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth.,miscellaneous:The mature protein migrates in two distinct mature proteins, P16 (16KDa) and P17 (17KDa).,similarity:Belongs to the TGF-beta family.,subunit:Homodimer. But, in contrast to other members of this family, cannot be disulfide-linked.,
