Gene: FSHR

Alternate names for this Gene: FSHR1|FSHRO|LGR1|ODG1

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: follicle stimulating hormone receptor

Type of Gene: protein-coding

rs2268363 in FSHR gene and Erectile dysfunction PMID 20932654 2010 We identified SNP rs2268363, located in the follicle-stimulating hormone receptor (FSHR) gene, as significantly associated with ED after correcting for multiple comparisons (unadjusted p = 5.46 × 10(-8), Bonferroni p = 0.028).

rs121909665 in FSHR gene and Ovarian Hyperstimulation Syndrome PMID 15080154 2004 A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

PMID 24058690 2013 Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.

PMID 16278261 2006 Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

PMID 25581598 2015 Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor.

PMID 17721928 2008 Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

PMID 12930928 2003 Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

PMID 12930927 2003 A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.

rs10865238 in FSHR gene and Polycystic Ovary Syndrome PMID 22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

rs2268363 in FSHR gene and Prostate carcinoma PMID 20932654 2010 Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.