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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. Note: This description may include information from UniProtKB.
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| Protein type: GPCR, family 1; Membrane protein, integral; Receptor, GPCR |
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Cellular Component: cell surface; plasma membrane; integral to membrane; endosome
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Molecular Function: protein binding; peptide hormone binding; follicle-stimulating hormone receptor activity
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Biological Process: G-protein coupled receptor protein signaling pathway; gonad development; male gonad development; spermatogenesis, exchange of chromosomal proteins; female gamete generation; spermatogenesis; regulation of chromosome organization and biogenesis; transcytosis; G-protein signaling, adenylate cyclase activating pathway; female gonad development
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Reference #:
P23945 (UniProtKB)
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| Alt. Names/Synonyms: follicle stimulating hormone receptor; Follicle-stimulating hormone receptor; Follitropin receptor; FSH receptor; FSH-R; FSHR; FSHRO; LGR1; MGC141667; MGC141668; ODG1 |
| Gene Symbols: FSHR |
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Molecular weight: 78,265 Da
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Basal Isoelectric point: 6.77
Predict pI for various phosphorylation states
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