Recombinant Human Collagen alpha-5 (IV) chain (COL4A5), Truncated

Uniprot Id

P29400

Target Species

Human

Target Name

COL4A5

Target Full Name

Collagen alpha-5(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

Alport syndrome, X-linked (APSX)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix, basement membrane.

Target Protein Families

Type IV collagen family

Target Tissue Specificity

Isoform 2 is found in kidney.

Target Synonyms

CO4A5_HUMAN; COL4A5; Collagen alpha-5(IV) chain

Target Background

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. Alternatively spliced transcript variants have been identified for this gene.