Girish Mahajan (Editor)

Collagen, type IV, alpha 5

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Species
  
Human

Entrez
  
1287

Human
  
Mouse

Ensembl
  
ENSG00000188153

Collagen, type IV, alpha 5 destaticcloudclonecomitemimgCollagenTypeI

Aliases
  
COL4A5, ASLN, ATS, CA54, collagen type IV alpha 5, collagen type IV alpha 5 chain

External IDs
  
MGI: 88456 HomoloGene: 133559 GeneCards: COL4A5

Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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 so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.

Disease Databases

ARUP COL4A5 gene variant database

LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)

References

Collagen, type IV, alpha 5 Wikipedia