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Human FSHR  Gene / cDNA Clone

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FSHR
HP104547 

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    FSHR Summary & Protein Information

    FSHR Background

    Subunit structure: Interacts with ARRB2. {ECO:0000250}.
    Subcellular location: Cell membrane; Multi-pass membrane protein.
    Tissue specificity: Sertoli cells and ovarian granulosa cells.
    Post-translational: N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone. {ECO:0000250}.
    Involvement in disease: DISEASE: Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269|PubMed:10551778, ECO:0000269|PubMed:11889179, ECO:0000269|PubMed:12571157, ECO:0000269|PubMed:12915623, ECO:0000269|PubMed:7553856, ECO:0000269|PubMed:9769327, ECO:0000269|PubMed:9851774}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]: 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. {ECO:0000269|PubMed:12930927, ECO:0000269|PubMed:12930928, ECO:0000269|PubMed:15080154, ECO:0000269|PubMed:16278261, ECO:0000269|PubMed:17721928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.; Contains 9 LRR (leucine-rich) repeats. {ECO:0000305}.; Contains 1 LRRNT domain. {ECO:0000305}.
    General information above from UniProt

    FSHR Alternative Name

    LGR1,ODG1,FSHRO, [homo-sapiens]

    FSHR Related Studies

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