External Ids for SOST Gene
Previous GeneCards Identifiers for SOST Gene
Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOST Gene
SOST (Sclerostin) is a Protein Coding gene. Diseases associated with SOST include Sclerosteosis 1 and Craniodiaphyseal Dysplasia, Autosomal Dominant. Among its related pathways are Signaling by GPCR and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include transcription factor binding and heparin binding. An important paralog of this gene is SOSTDC1.
UniProtKB/Swiss-Prot Summary for SOST Gene
Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.