sclerosteosis

SOST

A gene on chromosome17q11.2 that encodes sclerostin, 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.
Molecular pathology
Loss-of-function mutations in SOST are linked to sclerosteosis; a deletion downstream of SOST causes reduced sclerostin expression, resulting in a milder sclerosteosis (van Buchem disease).

sclerosteosis

A bone abnormality involving increased density.

单词	sclerosteosis
释义	sclerosteosis SOST A gene on chromosome17q11.2 that encodes sclerostin, 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. Molecular pathology Loss-of-function mutations in SOST are linked to sclerosteosis; a deletion downstream of SOST causes reduced sclerostin expression, resulting in a milder sclerosteosis (van Buchem disease). sclerosteosis A bone abnormality involving increased density. AcronymsSeeSOST
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