CRTAP
Function
Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
Involvement in disease
Osteogenesis imperfecta 7
OI7
A 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. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the leprecan family.
Tissue Specificity
Found in articular chondrocytes. Expressed in a variety of tissues.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
CASP, CRTAP, Cartilage-associated protein