SPARC

Expressed at high levels in tissues undergoing morphogenesis, remodeling and wound repair.

Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity.

Osteogenesis imperfecta 17

OI17

An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the SPARC family.

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane
• In or around the basement membrane.

ON, SPARC, Basement-membrane protein 40, Osteonectin, Secreted protein acidic and rich in cysteine, BM-40

• entrezGene:6678
• omim:182120
• swissprot:P09486

Proteins

Cardiovascular

34632Da