Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4gene.
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.
^Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (Aug 1992). "Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37". Genomics. 13 (3): 809–13. doi:10.1016/0888-7543(92)90157-N. PMID1639407.
Hudson BG, Reeders ST, Tryggvason K (1994). "Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis". J. Biol. Chem. 268 (35): 26033–6. PMID8253711.
Pescucci C, Longo I, Bruttini M, et al. (2003). "Type-IV collagen related diseases". J. Nephrol. 16 (2): 314–6. PMID12768082.
Torra R, Tazón-Vega B, Ars E, Ballarín J (2005). "Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure". Nephrol. Dial. Transplant. 19 (10): 2429–32. doi:10.1093/ndt/gfh435. PMID15280517.
Kamagata Y, Mattei MG, Ninomiya Y (1992). "Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2". J. Biol. Chem. 267 (33): 23753–8. PMID1429714.
Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID1724753.
Murata K, Motayama T, Kotake C (1986). "Collagen types in various layers of the human aorta and their changes with the atherosclerotic process". Atherosclerosis. 60 (3): 251–62. doi:10.1016/0021-9150(86)90172-3. PMID3089234.
Glant TT, Hadházy C, Mikecz K, Sipos A (1985). "Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II". Histochemistry. 82 (2): 149–58. doi:10.1007/bf00708199. PMID3997552.
Uscanga L, Kennedy RH, Stocker S, et al. (1984). "Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas". Digestion. 30 (3): 158–64. doi:10.1159/000199100. PMID6389236.