Cartilage associated protein
Encyclopedia
Cartilage associated protein is a protein
that in humans is encoded by the CRTAP gene
.
/ARNO
family in response to specific cellular stimuli.
, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the CRTAP gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
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 cytohesinPSCD1
Cytohesin-1 is a protein that in humans is encoded by the CYTH1 gene.-Interactions:PSCD1 has been shown to interact with TRIM23, ARFRP1 and CD18.-Further reading:...
/ARNO
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 Mount Falterona in the Casentino area of the Apennines, and initially takes a southward curve...
family in response to specific cellular stimuli.
Clinical significance
Mutations in the CRTAP gene are associated with osteogenesis imperfectaOsteogenesis imperfecta
Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.