CRTAP

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq]

Full Name

cartilage associated protein

Function

Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.

Biological Process

Chaperone-mediated protein folding Source: UniProtKB
Collagen fibril organization Source: GO_Central
Negative regulation of post-translational protein modification Source: UniProtKB
Peptidyl-proline hydroxylation to 3-hydroxy-L-proline Source: GO_Central
Protein stabilization Source: UniProtKB
Spermatogenesis Source: Ensembl

Cellular Location

Extracellular matrix

Involvement in disease

Osteogenesis imperfecta 7 (OI7):
A form of osteogenesis imperfecta, a connective tissue disorder 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.