FSHB
entrez
2488
canonical
uniprot
P01225
canonical
ensembl
ENSG00000131808
resolver
ensp
ENSP00000254122
resolver
ensp
ENSP00000416606
resolver
ensp
ENSP00000433424
resolver
enst
ENST00000254122
resolver
enst
ENST00000417547
resolver
enst
ENST00000533718
resolver
genesymbol
FSHB
resolver
hgnc
HGNC:3964
resolver
uniprot
A2TF08
resolver
uniprot
A5JVV3
resolver
uniprot
Q14D61
resolver
uniprot_entry
FSHB_HUMAN
resolver
uniprot_sec
A2TF08
resolver
uniprot_sec
A5JVV3
resolver
uniprot_sec
Q14D61
resolver
amino_acid_sequence
MKTLQFFFLFCCWKAICCNSCELTNITIAIEKEECRFCISINTTWCAGYCYTRDLVYKDPARPKIQKTCTFKELVYETVRVPGCAHHADSLYTYPVATQCHCGKCDSDSTDCTVRGLGPSYCSFGEMKE
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 24 with or 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.
uniprot
proteins
function
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). {ECO:0000269|PubMed:24692546, ECO:0000269|PubMed:2494176, ECO:0000269|PubMed:407105, ECO:0000269|PubMed:8220432}.
uniprot
proteins
mass_dalton
14700
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="T->E: Increased activation of the follicle-stimulating hormone signaling pathway."; /evidence="ECO:0000269|PubMed:24692546
uniprot
proteins
protein_family
Glycoprotein hormones subunit beta family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
11222739
uniprot
proteins
pubmed
11501762
uniprot
proteins
pubmed
1249074
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15662415
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
24692546
uniprot
proteins
pubmed
2494176
uniprot
proteins
pubmed
2885163
uniprot
proteins
pubmed
3139991
uniprot
proteins
pubmed
3151250
uniprot
proteins
pubmed
407105
uniprot
proteins
pubmed
4835136
uniprot
proteins
pubmed
6774759
uniprot
proteins
pubmed
8220432
uniprot
proteins
pubmed
9271483
uniprot
proteins
pubmed
9280841
uniprot
proteins
sequence_length
129
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2494176}. Note=Efficient secretion requires dimerization with CGA. {ECO:0000269|PubMed:2494176}.
uniprot
proteins