Family

Sclerostin/Sclerostin domain-containing protein 1 (IPR008835)

Short name: Sclerostin/SOSTDC1

Family relationships

  • Sclerostin/Sclerostin domain-containing protein 1 (IPR008835)

Description

This sclerostin family consists of sclerostin and sclerostin domain-containing protein 1. Sclerostin (SOST) is thought to suppress bone formation. Mutations of the SOST gene lead to sclerosteosis, a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterised by a generalised hyperostosis and sclerosis leading to a markedly thickened and sclerotic 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 [PMID: 11181578]. Sclerostin domain-containing protein 1, also known as USAG1, is a bone morphogenetic protein antagonist [PMID: 15020244].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005615 extracellular space

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER