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Background
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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.
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Background
References
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- Semenov,M.V., J. Biol. Chem. 281 (50), 38276-38284 (2006)
- Ellies,D.L., J. Bone Miner. Res. 21 (11), 1738-1749 (2006)
- Balemans,W., J Musculoskelet Neuronal Interact 6 (4), 355-356 (2006)
- Gardner,J.C., J. Clin. Endocrinol. Metab. 90 (12), 6392-6395 (2005)
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