Type-III collagen

Jump to navigation Jump to search

Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
Symbols COL3A1 ; EDS4A; FLJ34534
External IDs Template:OMIM5 Template:MGI HomoloGene55433
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
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a


Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant), also known as COL3A1, is a human gene.

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.[1]

Type-III collagen is a fibrous scleroprotein in bone, cartilage, tendon, bone marrow stroma [2] 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.

See also


  1. "Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)".
  2. 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.

External links

Template:WH Template:WS