Puneet Varma (Editor)

Collagen, type I, alpha 2

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Species
  
Human

Entrez
  
1278

Human
  
Mouse

Ensembl
  
ENSG00000164692

Collagen, type I, alpha 2 atlasgeneticsoncologyorgGenesImagesCOL1A2Fig1jpg

Aliases
  
COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain

External IDs
  
OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.

This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.

References

Collagen, type I, alpha 2 Wikipedia