Collagen, type III, alpha 1
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Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene,[5][6] which is located on chromosome 2.
Function
Collagen alpha-1(III) chain is a precursor to collagen III,[7] a protein that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. 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.[8]
Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; it yields gelatin on boiling.
Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.
Clinical significance
Mutations in this gene are associated with type III and IV Ehlers-Danlos syndrome and with aortic and arterial aneurysms.
See also
Further reading
External links
- GeneReview/NCBI/NIH/UW entry on Ehlers-Danlos Syndrome Type IV
- Collagen+type+III at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000168542 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026043 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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. doi:10.1093/nar/17.16.6742. PMC 318382. PMID 2780304.
- ^ 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.
- ^ Mayne, Richard; Burgeson, Robert E. Structure and Function of Collagen Types. Academic Press, Inc. ISBN 0-12-481280-5.
- ^ "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)".
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