LHB
entrez
3972
canonical
uniprot
P01229
canonical
ensembl
ENSG00000104826
resolver
ensp
ENSP00000497294
resolver
enst
ENST00000649238
resolver
genesymbol
LHB
resolver
hgnc
HGNC:6584
resolver
uniprot
Q9UDI0
resolver
uniprot_entry
LSHB_HUMAN
resolver
uniprot_sec
Q9UDI0
resolver
amino_acid_sequence
MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 23 with or without anosmia (HH23) [MIM:228300]: 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. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. {ECO:0000269|PubMed:1727547}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
uniprot
proteins
mass_dalton
15345
uniprot
proteins
protein_family
Glycoprotein hormones subunit beta family
uniprot
proteins
pubmed
11870227
uniprot
proteins
pubmed
1191677
uniprot
proteins
pubmed
1495492
uniprot
proteins
pubmed
1727547
uniprot
proteins
pubmed
1991473
uniprot
proteins
pubmed
4685398
uniprot
proteins
pubmed
4719207
uniprot
proteins
pubmed
6690982
uniprot
proteins
pubmed
7689962
uniprot
proteins
pubmed
9457942
uniprot
proteins
pubmed
9886510
uniprot
proteins
sequence_length
141
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins