COL4A6

1. [This gene plays a role in the compositional regulation of basement membranes. ( NCI )]
   UMLS (NCI) C1332775
   
   COL4A6 Gene
   Collagen, Type IV, Alpha 6 Gene
    

   Gene or Genome

2. [Collagen IV (Alpha 6), encoded by the human COL4A6 gene, is a subunit 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. (From LocusLink and NCI) ( NCI )]
   UMLS (NCI) C1333080
   
   COL4A6 Protein
   Collagen IV (Alpha 6)
    

   Amino Acid, Peptide, or Protein

   Biologically Active Substance