Collagen, type III, alpha 1

From Infogalactic: the planetary knowledge core
(Redirected from COL3)
Jump to: navigation, search

<templatestyles src="Module:Infobox/styles.css"></templatestyles>

Collagen, type III, alpha 1
250px
Rendering based on PDB 2V53.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL3A1 ; EDS4A
External IDs OMIM120180 MGI88453 HomoloGene55433 GeneCards: COL3A1 Gene
RNA expression pattern
File:PBB GE COL3A1 211161 s at tn.png
File:PBB GE COL3A1 201852 x at tn.png
File:PBB GE COL3A1 215076 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1281 12825
Ensembl ENSG00000168542 ENSMUSG00000026043
UniProt P02461 P08121
RefSeq (mRNA) NM_000090 NM_009930
RefSeq (protein) NP_000081 NP_034060
Location (UCSC) Chr 2:
188.97 – 189.01 Mb
Chr 1:
45.31 – 45.35 Mb
PubMed search [1] [2]

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

Function

Collagen alpha-1(III) chain is 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. 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, dentin, tendon, bone marrow stroma 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.

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

  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.

External links


References

  1. Lua error in package.lua at line 80: module 'strict' not found.
  2. Lua error in package.lua at line 80: module 'strict' not found.
  3. Lua error in package.lua at line 80: module 'strict' not found.


<templatestyles src="Asbox/styles.css"></templatestyles>