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| Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | COL3A1; EDS4A; FLJ34534 | |||||||||||||
| External IDs | OMIM: 120180 MGI: 88453 HomoloGene: 55433 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 1281 | 12825 | ||||||||||||
| Ensembl | ENSG00000168542 | ENSMUSG00000026043 | ||||||||||||
| UniProt | P02461 | n/a | ||||||||||||
| RefSeq | NM_000090 (mRNA) | NM_009930 (mRNA) | ||||||||||||
| NP_000081 (protein) | NP_034060 (protein) | |||||||||||||
| Location | Chr 2: 189.55 - 189.59 Mb |
Chr 1: 45.27 - 45.29 Mb |
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| 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.
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See also
References
- ^ 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.
- ^ 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.
- ^ "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.
- ^ 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:. PMID 9101290.
External links
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