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Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
Identifiers
Symbols COL3A1; EDS4A; FLJ34534
External IDs OMIM120180 MGI88453 HomoloGene55433 GeneCards: COL3A1 Gene
RNA expression pattern
PBB GE COL3A1 211161 s at tn.png
PBB GE COL3A1 201852 x at tn.png
PBB GE COL3A1 215076 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1281 12825
Ensembl ENSG00000168542 ENSMUSG00000026043
UniProt P02461 n/a
RefSeq (mRNA) NM_000090 NM_009930
RefSeq (protein) NP_000081 NP_034060
Location (UCSC) Chr 2:
189.55 - 189.59 Mb
Chr 1:
45.27 - 45.29 Mb
PubMed search [1] [2]

Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene.[1][2]

This gene encodes a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.[3]

Type-III collagen is a fibrous scleroprotein in bone, cartilage, tendon, bone marrow stroma [4] and other connective tissue; yields gelatin on boiling.

Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.

Contents

See also

References

  1. ^ Janeczko RA, Ramirez F (Oct 1989). "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen". Nucleic Acids Res 17 (16): 6742. PMID 2780304.  
  2. ^ Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (Jun 1988). "Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen". J Biol Chem 263 (13): 6226-32. PMID 2834369.  
  3. ^ "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281.  
  4. ^ Semester 4 medical lectures at Uppsala University 2008 by Leif Jansson

Further reading

  • Kuivaniemi H, Tromp G, Prockop DJ (1991). "Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.". J. Clin. Invest. 88 (5): 1441–4. PMID 1939638.  
  • Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.  

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