Cartilage associated protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''CRTAP''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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 ...
family in response to specific cellular stimuli.
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 break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may b ...
, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.
References
Further reading
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