CRTAP gene

cartilage associated protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Osteogenesis imperfecta type 7

From UniProt:

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. [MIM:610682]

Cytogenetic Location: 3p22.3, which is the short (p) arm of chromosome 3 at position 22.3

Molecular Location: base pairs 33,114,014 to 33,147,773 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 3p22.3, which is the short (p) arm of chromosome 3 at position 22.3
  • CASP
  • LEPREL3
  • OI7
  • P3H5