Cartilage associated protein

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

CRTAP
Identifiers
AliasesCRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein
External IDsOMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP
Orthologs
SpeciesHumanMouse
Entrez

10491

56693

Ensembl

ENSG00000170275

ENSMUSG00000032431

UniProt

O75718

Q9CYD3

RefSeq (mRNA)

NM_006371

NM_019922

RefSeq (protein)

NP_006362

NP_064306

Location (UCSC)Chr 3: 33.11 – 33.15 MbChr 9: 114.2 – 114.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

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.[7][8]

References

  1. GRCh38: Ensembl release 89: ENSG00000170275 - Ensembl, May 2017
  2. 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. "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. S2CID 24887051.
  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. PMC 7509984. 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

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


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