Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
Identifiers
Symbols	COL3A1; EDS4A; FLJ34534
External IDs	OMIM: 120180 MGI: 88453 HomoloGene: 55433
Gene ontology Molecular function: • extracellular matrix structural constituent Cellular component: • collagen • collagen type III • cytoplasm Biological process: • phosphate transport • circulation • organ morphogenesis
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	1281	12825
Ensembl	ENSG00000168542	ENSMUSG00000026043
Uniprot	P02461	n/a
Refseq	NM_000090 (mRNA) NP_000081 (protein)	NM_009930 (mRNA) NP_034060 (protein)
Location	Chr 2: 189.55 - 189.59 Mb	Chr 1: 45.27 - 45.29 Mb
Pubmed search	[1]	[2]

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

• Collagen
• Ehlers-Danlos syndrome

References

Further reading

External links

• MeSH Collagen+type+III

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