Cartilage Associated (CRTAP) Antibody – Rabbit Polyclonal

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]

CRTAP: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. Defects in CRTAP are the cause of osteogenesis imperfecta type 7 (OI7). A connective tissue disorder characterized by short stature, short humeri and femora, coxa vara, white sclera, and the absence of dentinogenesis imperfecta. Multiple fractures are present at birth, and patients manifest moderate-severe bone fragility. Death may occurr in the perinatal period due to secondary respiratory insufficiency. Belongs to the leprecan family.

Protein type: Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3p22.3

Cellular Component: proteinaceous extracellular matrix; extracellular space; endoplasmic reticulum lumen; endoplasmic reticulum

Molecular Function: protein complex binding

Biological Process: extracellular matrix organization and biogenesis; protein stabilization; spermatogenesis; peptidyl-proline hydroxylation to 3-hydroxy-L-proline

Disease: Osteogenesis Imperfecta, Type Vii