UniProt functional annotation for P01225



	UniProt functional annotation for P01225

UniProt code: P01225.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432). {ECO:0000269|PubMed:24692546, ECO:0000269|PubMed:2494176, ECO:0000269|PubMed:407105, ECO:0000269|PubMed:8220432}.

Subunit: Heterodimer. The active follitropin is a heterodimer composed of an alpha chain/CGA shared with other hormones and a unique beta chain/FSHB shown here. {ECO:0000269|PubMed:15662415, ECO:0000269|PubMed:24692546, ECO:0000269|PubMed:2494176}.

Subcellular location: Secreted {ECO:0000269|PubMed:2494176}. Note=Efficient secretion requires dimerization with CGA. {ECO:0000269|PubMed:2494176}.

Disease: Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070]: 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. {ECO:0000269|PubMed:8220432, ECO:0000269|PubMed:9271483, ECO:0000269|PubMed:9280841}. Note=The disease is caused by variants affecting the gene represented in this entry.

Pharmaceutical: Available 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.

Similarity: Belongs to the glycoprotein hormones subunit beta family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432). {ECO:0000269\|PubMed:24692546, ECO:0000269\|PubMed:2494176, ECO:0000269\|PubMed:407105, ECO:0000269\|PubMed:8220432}.


Subunit:		Heterodimer. The active follitropin is a heterodimer composed of an alpha chain/CGA shared with other hormones and a unique beta chain/FSHB shown here. {ECO:0000269\|PubMed:15662415, ECO:0000269\|PubMed:24692546, ECO:0000269\|PubMed:2494176}.
Subcellular location:		Secreted {ECO:0000269\|PubMed:2494176}. Note=Efficient secretion requires dimerization with CGA. {ECO:0000269\|PubMed:2494176}.
Disease:		Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070]: 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. {ECO:0000269\|PubMed:8220432, ECO:0000269\|PubMed:9271483, ECO:0000269\|PubMed:9280841}. Note=The disease is caused by variants affecting the gene represented in this entry.
Pharmaceutical:		Available 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.
Similarity:		Belongs to the glycoprotein hormones subunit beta family. {ECO:0000305}.