FSHR gene

follicle stimulating hormone receptor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Receptor for follicle-stimulating hormone or follitropin (PubMed:11847099, PubMed:24058690). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Induces cAMP production through the activation of PI3K-AKT and SRC-ERK1/2 signaling pathways (PubMed:24058690).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ovarian hyperstimulation syndrome
  • Dizygotic twins
  • Ovarian dysgenesis 1

From UniProt:

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). [MIM:233300]

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. [MIM:608115]

Cytogenetic Location: 2p16.3, which is the short (p) arm of chromosome 2 at position 16.3

Molecular Location: base pairs 48,953,161 to 49,154,527 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2p16.3, which is the short (p) arm of chromosome 2 at position 16.3
  • FSHR1
  • LGR1
  • ODG1