Required for normal bone mineralization.
Osteogenesis imperfecta 5
OI5
An autosomal dominant 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. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation.
None
The disease is caused by variants affecting the gene represented in this entry.
Palmitoylated.
Belongs to the CD225/Dispanin family.
Detected in osteoblasts and fibroblasts (at protein level) (PubMed:24519609). Detected in bone (PubMed:24058703).
Interferon-induced transmembrane protein 5, Bone-restricted interferon-induced transmembrane protein-like protein, Dispanin subfamily A member 1, BRIL, DSPA1, IFITM5
Proteins
14378Da
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