Recombinant Human Collagen alpha-6 (IV) chain (COL4A6), Truncated

Uniprot Id

Q14031

Target Species

Human

Target Name

COL4A6

Target Full Name

Collagen alpha-6(IV) chain

Target Function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

Target Involvement

Deafness, X-linked, 6 (DFNX6)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix, basement membrane.

Target Protein Families

Type IV collagen family

Target Synonyms

COL4A6Collagen alpha-6(IV) chain

Target Background

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.