Cartilage associated protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''CRTAP''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Structure and function
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
The Arno is a river in the Tuscany region of Italy. It is the most important river of central Italy after the Tiber.
Source and route
The river originates on Monte Falterona in the Casentino area of the Apennines, and initially takes a sou ...
family in response to specific cellular stimuli.
CRTAP forms a tight protein complex with two other enzymes involved in post-translational modification:
Leprecan (P3H1) and
PPIB.
In this complex, CRTAP acts as a collagen-binding site, capturing substrates for subsequent enzymatic processing by P3H1 and PPIB. Notably, CRTAP exhibits a folding pattern similar to the N-terminal domain of P3H1.
Clinical significance
Mutations in the CRTAP gene are associated with
osteogenesis imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that bone fracture, break easily. The range of symptoms—on the skeleton as well as on the body's other Or ...
, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.
References
Further reading
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