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COL4A4
Anti-COL4A4 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Secreted
Single cell type specificity
Cell type enhanced (Muller glia cells, Alveolar cells type 1, Granulosa cells, Cone photoreceptor cells, Oligodendrocyte precursor cells, Collecting duct cells)
Immune cell specificity
Immune cell enriched (memory B-cell)
Cell line specificity
Cell line enhanced (HeLa, hTERT-RPE1, Karpas-707, RPTEC TERT1)
Interaction
There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network. The alpha 3(IV) chain forms a triple helical protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha 5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite protomer, respectively. Associates with LAMB2 at the neuromuscular junction and in GBM (By similarity).
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