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; Membrane protein, multi-pass; GPCR, family 1; Membrane protein, integral
Cellular Component: cell surface; cell; integral to membrane; plasma membrane; endosome
Molecular Function: G-protein coupled receptor activity; protein binding; peptide hormone binding; follicle-stimulating hormone receptor activity
Biological Process: regulation of estrogen receptor signaling pathway; follicle-stimulating hormone signaling pathway; primary ovarian follicle growth; positive regulation of estrogen receptor signaling pathway; locomotory behavior; regulation of chromosome organization and biogenesis; uterus development; G-protein signaling, adenylate cyclase activating pathway; ovulation cycle process; regulation of osteoclast differentiation; sperm chromatin condensation; ovarian follicle development; negative regulation of bone resorption; neurite development; regulation of protein amino acid phosphorylation; regulation of hormone metabolic process; cellular water homeostasis; spermatogenesis, exchange of chromosomal proteins; male gonad development; Sertoli cell proliferation; transcytosis; Sertoli cell development; G-protein signaling, coupled to cAMP nucleotide second messenger; regulation of MAPKKK cascade; regulation of systemic arterial blood pressure; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); spermatogenesis; G-protein signaling, adenylate cyclase inhibiting pathway; spermatid development
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