Symbol
| SOST
| contributors: mct/pgu - updated : 01-10-2015
|
HGNC name
| sclerostin
|
HGNC id
| 13771
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
leads to the hyperactivation of Wnt signaling that underlies bone overgrowth seen in sclerosteosis patients | constitutional
|  
|  
| --over
|  
|
women with T1DM exhibit higher sclerostin levels than men | constitutional
|  
|  
| --low
|  
|
decreased sclerostin levels in osteogenesis imperfecta might reflect a down-regulation or negative feedback mechanism to prevent further bone loss | |
Susceptibility
|
to decreased bone density (BMD) |
Variant & Polymorphism
other
| SRP3 or SRP9 polymorphism associated with decreased bone density (BMD) |
|
|
Candidate gene
| expression in patients with spondylitis ankylosing is virtually absent, suggesting a specific alteration of osteocyte function in this disease |
Marker
| BMP6, NOG and SOST could be used in combination as a prognostic indicator in cancer progression |
Therapy target
|
System | Type | Disorder | Pubmed |
osteoarticular | bone | ostéoporosis | |
potential target for therapeutics designed to treat conditions associated with low bone mass, such as osteoporosis | osteoarticular | bone | ostéoporosis | |
sclerostin and DKK1 are emerging as the leading new targets for anabolic therapies to treat bone diseases such as osteoporosis and for bone repair |
| |
| in Sost-KO mice endocortical bone exhibited altered bone composition, whereas subperiosteal bone was unchanged |