Cartilage associated protein

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AliasesCRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein
External IDsOMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CRTAP
Genomic location for CRTAP
Band3p22.3Start33,113,979 bp[1]
End33,147,773 bp[1]
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 3: 33.11 – 33.15 MbChr 9: 114.38 – 114.39 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[5][6]


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.[5]

Clinical significance[edit]

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.[7][8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170275 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032431 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: cartilage associated protein".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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[edit]

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