Cartilage associated protein

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[1][2]

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 family in response to specific cellular stimuli.[1]

Clinical significance

Mutations in the CRTAP gene are associated with osteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.[3][4]

References

  1. 1.0 1.1 "Entrez Gene: cartilage associated protein".
  2. Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P (1999). "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet. 87 (3–4): 191–4. doi:10.1159/000015463. PMID 10702664.
  3. Barnes AM, Chang W, Morello R, et al. (December 2006). "Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta". N. Engl. J. Med. 355 (26): 2757–64. doi:10.1056/NEJMoa063804. PMID 17192541.
  4. Baldridge D, Schwarze U, Morello R, et al. (December 2008). "CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta". Hum. Mutat. 29 (12): 1435–42. doi:10.1002/humu.20799. PMC 2671575. PMID 18566967.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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