FSHR
Function
G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690).
Involvement in disease
Ovarian dysgenesis 1
ODG1
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).
None
The disease is caused by variants affecting the gene represented in this entry.
Ovarian hyperstimulation syndrome
OHSS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sulfated.
N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone.
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Tissue Specificity
Sertoli cells and ovarian granulosa cells.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
LGR1, FSHR, Follicle-stimulating hormone receptor, FSH-R, Follitropin receptor