Cartilage associated protein

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Cartilage associated protein
Identifiers
Symbols CRTAP ; CASP; LEPREL3; OI7
External IDs OMIM605497 MGI1891221 HomoloGene21280 GeneCards: CRTAP Gene
Orthologs
Species Human Mouse
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:
33.16 – 33.19 Mb
Chr 9:
114.38 – 114.39 Mb
PubMed search [1] [2]

Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[1][2]

Function[edit]

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[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.[3][4]

References[edit]

  1. ^ a b "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[edit]

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