FSHB

Function

Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:24692546, PubMed:2494176). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).

Involvement in disease

Hypogonadotropic hypogonadism 24 with or without anosmia

HH24

A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the glycoprotein hormones subunit beta family.

Cellular localization

• Secreted
• Efficient secretion requires dimerization with CGA.

Alternative names

Follitropin subunit beta, Follicle-stimulating hormone beta subunit, Follitropin beta chain, FSH-B, FSH-beta, FSHB

Database links

swissprot:P01225 entrezGene:1081 entrezGene:2488 swissprot:P01215 omim:136530 omim:118850