Rabbit Anti-SOST Recombinant Antibody (CBXS-4249) (CBMAB-S1501-CQ)

sclerostin

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.

Sclerostin; Sclerosteosis; DAND6; SOST1; VBCH; CDD;

Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.

Biological Process BMP signaling pathwayIEA:Ensembl
Biological Process canonical Wnt signaling pathwayIEA:Ensembl
Biological Process cellular response to parathyroid hormone stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process localizationManual Assertion Based On ExperimentIEP:DisProt
Biological Process negative regulation of BMP signaling pathwayManual Assertion Based On ExperimentIDA:MGI
Biological Process negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of ossification2 PublicationsNAS:UniProtKB
Biological Process negative regulation of protein-containing complex assemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of Wnt signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ossificationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process response to mechanical stimulusManual Assertion Based On ExperimentIEP:UniProtKB

Secreted, extracellular space, extracellular matrix

Sclerosteosis 1 (SOST1):
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.
Van Buchem disease (VBCH):
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.
Craniodiaphyseal dysplasia autosomal dominant (CDD):
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.