Rabbit anti-Human COL4A4 Polyclonal Antibody

Uniprot Id

P53420

Target Species

Human

Target Name

COL4A4

Target Full Name

Collagen alpha-4(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, autosomal recessive (APSAR); Hematuria, benign familial (BFH)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix, basement membrane.

Target Protein Families

Type IV collagen family

Target Tissue Specificity

Expressed in Bruch's membrane, outer plexiform layer, inner nuclear layer, inner plexiform layer, ganglion cell layer, inner limiting membrane and around the blood vessels of the retina (at protein level). Alpha 3 and alpha 4 type IV collagens are colocal

Target Synonyms

BFH; ATS2; BFH1; CA44; COL4A4

Target Background

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR.