SOST
entrez
50964
canonical
uniprot
Q9BQB4
canonical
ensembl
ENSG00000167941
resolver
ensp
ENSP00000301691
resolver
genesymbol
SOST
resolver
hgnc
HGNC:13771
resolver
uniprot
Q495N9
resolver
uniprot_entry
SOST_HUMAN
resolver
uniprot_sec
Q495N9
resolver
amino_acid_sequence
MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPELGEYPEPPPELENNKTMNRAENGGRPPHHPFETKDVSEYSCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPNAIGRGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRARKVRLVASCKCKRLTRFHNQSELKDFGTEAARPQKGRKPRPRARSAKANQAELENAY
uniprot
proteins
disease_involvement
DISEASE: Sclerosteosis 1 (SOST1) [MIM:269500]: An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. {ECO:0000269|PubMed:11179006, ECO:0000269|PubMed:11181578, ECO:0000269|PubMed:20583295}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Van Buchem disease (VBCH) [MIM:239100]: VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. {ECO:0000269|PubMed:11836356}. Note=The disease is caused by variants affecting the gene represented in this entry. A 52 kb deletion downstream of SOST results in SOST transcription suppression causing van Buchem disease.; DISEASE: Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]: A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. {ECO:0000269|PubMed:21221996}. Note=The disease is caused by variants affecting the gene represented in this entry. Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.
uniprot
proteins
function
FUNCTION: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation. {ECO:0000269|PubMed:15908424}.
uniprot
proteins
mass_dalton
24031
uniprot
proteins
protein_family
Sclerostin family
uniprot
proteins
pubmed
11179006
uniprot
proteins
pubmed
11181578
uniprot
proteins
pubmed
11836356
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15908424
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19208630
uniprot
proteins
pubmed
20551380
uniprot
proteins
pubmed
20583295
uniprot
proteins
pubmed
21221996
uniprot
proteins
pubmed
21471202
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20551380}.
uniprot
proteins