Source:http://linkedlifedata.com/resource/umls/id/C2986690
NCI: Human FSHR wild-type allele is located within 2p21-p16 and is approximately 192 kb in length. This allele, which encodes follicle-stimulating hormone receptor protein, plays a role in the regulation of female gamete generation, hormone signaling and gonad development. Mutation of the gene is associated with both ovarian dysgenesis type 1 and ovarian hyperstimulation syndrome.