FSHB

FSHB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FL7, 1XWD, 4AY9, 4MQW
Identifiers
Aliases	FSHB, HH24, follicle stimulating hormone beta subunit, Follitropin subunit beta, follicle stimulating hormone subunit beta
External IDs	OMIM: 136530; MGI: 95582; HomoloGene: 430; GeneCards: FSHB; OMA:FSHB - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p14.1 Start 30,231,014 bp[1] End 30,235,261 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 E3|2 56.02 cM Start 106,886,485 bp[2] End 106,890,001 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary amygdala mammary gland breast right lung connective tissue adipose tissue ventricle nucleus accumbens left ventricle Top expressed in pituitary gland anterior pituitary secondary oocyte median eminence hypothalamus hippocampal formation hippocampus proper More reference expression data BioGPS More reference expression data
Gene ontology Molecular function follicle-stimulating hormone activity protein binding hormone activity Cellular component cytoplasm extracellular region extracellular space follicle-stimulating hormone complex Biological process progesterone biosynthetic process female gamete generation positive regulation of bone resorption regulation of osteoclast differentiation transforming growth factor beta receptor signaling pathway positive regulation of cell migration positive regulation of transcription by RNA polymerase II female pregnancy positive regulation of cell population proliferation ovarian follicle development Sertoli cell proliferation signal transduction peptide hormone processing positive regulation of gene expression cell-cell signaling hormone-mediated signaling pathway follicle-stimulating hormone signaling pathway regulation of signaling receptor activity G protein-coupled receptor signaling pathway positive regulation of steroid biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2488 14308 Ensembl ENSG00000131808 ENSMUSG00000027120 UniProt P01225 Q60687 RefSeq (mRNA) NM_000510 NM_001018080 NM_001382289 NM_008045 RefSeq (protein) NP_000501 NP_001018090 NP_001369218 NP_032071 Location (UCSC) Chr 11: 30.23 – 30.24 Mb Chr 2: 106.89 – 106.89 Mb PubMed search [3] [4]
Wikidata
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Follitropin subunit beta also known as follicle-stimulating hormone beta subunit (FSH-B) is a protein that in humans is encoded by the FSHB gene.^[5][6][7] Alternative splicing results in two transcript variants encoding the same protein.

Function

The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production.^[7]

The FSHB gene in human DNA encodes the follicle-stimulating hormone subunit beta protein (FSH-B), or Follitropin Beta. More specifically, the FSHB gene encodes for the beta subunit of follicle-stimulating hormone (FSH). Therefore, proper transcription of FSHB allows for the proper production of FSH. FSH is a peptide hormone the pituitary gland produces that is involved with the reproductive system. FSH promotes follicular oocyte (egg) production, growth, and maturation and helps control a female's menstrual cycle. Additionally, FSH is involved in the male reproductive system by stimulating spermatogenesis (maturation of sperm cells) and initiating puberty. Studies show that variations in the FSHB gene can contribute to the likelihood of a woman becoming pregnant with fraternal, or dizygotic, twins.^[8] This is because certain heritable variations of FSHB contribute to increased production of FSH from the pituitary gland, raising the levels of FSH found in a woman’s blood. It is also shown that women with these FSHB variants had their first menstrual cycle, children, and menopause at an earlier age than women without the variant.^[8] This relates to having an increased risk of a woman bearing fraternal twins because higher levels of FSH will produce more eggs.^[9] The more eggs a woman produces increases the chance of multiple eggs ovulating and becoming fertilized by sperm. In retrospect, depending on the type of variation, the FSHB gene could potentially cause infertility by the inability to produce enough FSH, in both males and females.^{[8] [10] [11]} Additionally, low or no FSH can result in delayed puberty and risk of disease.^{[12] [13]} Diseases associated with FSHB variants are hypogonadism, hypogonadotropic hypogonadism type 24 (HH24), and type 7 (HH7), and are possibly linked to polycystic ovary syndrome.^{[12] [13] [14]}

References

Further reading

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