Anti-Human COL4A6 Polyclonal Antibody

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. Alternative splicing results in multiple transcript variants encoding different isoforms.COL4A6 (Collagen Type IV Alpha 6 Chain) is a Protein Coding gene. Diseases associated with COL4A6 include Deafness, X-Linked 6 and X-Linked Non-Syndromic Sensorineural Deafness Type Dfn. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A2.