FSHR Antibody – Rabbit Polyclonal

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

FSHR: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Defects in FSHR are a cause of ovarian dysgenesis type 1 (ODG1); also known as premature ovarian failure or gonadal dysgenesis XX type or XX gonadal dysgenesis (XXGD) or hereditary hypergonadotropic ovarian failure or hypergonadotropic ovarian dysgenesis with normal karyotype. ODG1 is an autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS). OHSS is a disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Receptor, GPCR; GPCR, family 1; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p21-p16

Cellular Component: integral to membrane; integral to plasma membrane; plasma membrane

Molecular Function: follicle-stimulating hormone receptor activity; peptide receptor activity, G-protein coupled; protein binding

Biological Process: adenylate cyclase activation; female gamete generation; female gonad development; follicle-stimulating hormone signaling pathway; G-protein coupled receptor protein signaling pathway; G-protein signaling, adenylate cyclase activating pathway; gonad development; hormone-mediated signaling; male gonad development; positive regulation of phosphoinositide 3-kinase cascade; primary ovarian follicle growth; regulation of osteoclast differentiation; spermatogenesis

Disease: Ovarian Dysgenesis 1; Ovarian Hyperstimulation Syndrome; Twinning, Dizygotic