MGP Database

MGP001107

UniProt Annotations

Entry Information
Gene Namefollicle stimulating hormone, beta polypeptide
Protein EntryFSHB_HUMAN
UniProt IDP01225
SpeciesHuman
Comments
Comment typeDescription
DiseaseIsolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]: Selective follicle-stimulating hormone deficiency is an uncommon cause of infertility, producing amenorrhea and hypogonadism in women and oligo or azoospermia with normal testosterone levels in normally virilised men. {ECO:0000269|PubMed:8220432, ECO:0000269|PubMed:9271483, ECO:0000269|PubMed:9280841}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionStimulates development of follicle and spermatogenesis in the reproductive organs.
InteractionP01215:CGA; NbExp=2; IntAct=EBI-1030645, EBI-718913;
PharmaceuticalAvailable under the names Gonal-F or Metrodin HP (Serono) and Puregon (Organon). Used in the treatment of infertility in women with proven hypopituitarism or who have not responded to clomifene; or in superovulation treatment for assisted conception (such as in vitro fertilization). Metrodin HP is also used in the treatment of hypogonadotrophic hypogonadism in men for the stimulation of spermatogenesis.
SimilarityBelongs to the glycoprotein hormones subunit beta family. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitHeterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin. {ECO:0000269|PubMed:15662415}.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHB";
Web ResourceName=Wikipedia; Note=Follicle-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Follicle_stimulating_hormone";
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