CRTAP
Description
The CRTAP (cartilage associated protein) is a protein-coding gene located on chromosome 3.
CRTAP, or Cartilage associated protein, is a human protein encoded by the CRTAP gene. It shares similarities with CRTAP proteins found in chickens and mice. CRTAP functions as a scaffolding protein, potentially influencing the activity of cytohesin/ARNO family members in response to specific cellular signals. Mutations in the CRTAP gene are linked to osteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by brittle bones and low bone density.
CRTAP is also known as CASP, LEPREL3, OI7, P3H5.
