Trisha Shetty (Editor)

Collagen, type IV, alpha 6

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Species
  
Entrez
  
1288

Human
  
Ensembl
  
ENSG00000197565

Collagen, type IV, alpha 6

Aliases
  
COL4A6, CXDELq22.3, DELXq22.3, DFNX6, collagen type IV alpha 6, collagen type IV alpha 6 chain

External IDs
  
MGI: 2152695 HomoloGene: 48050 GeneCards: COL4A6

Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene.

References

Collagen, type IV, alpha 6 Wikipedia


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