COL4A4

COL4A4

Collagen, type IV, alpha 4, also known as COL4A4, is a human gene.cite web | title = Entrez Gene: COL4A4 collagen, type IV, alpha 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1286| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: COL4A4 collagen, type IV, alpha 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1286| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hinek A |title=Nature and the multiple functions of the 67-kD elastin-/laminin binding protein. |journal=Cell Adhes. Commun. |volume=2 |issue= 3 |pages= 185–93 |year= 1995 |pmid= 7827955 |doi=
*cite journal | author=Hudson BG, Reeders ST, Tryggvason K |title=Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. |journal=J. Biol. Chem. |volume=268 |issue= 35 |pages= 26033–6 |year= 1994 |pmid= 8253711 |doi=
*cite journal | author=Lemmink HH, Schröder CH, Monnens LA, Smeets HJ |title=The clinical spectrum of type IV collagen mutations. |journal=Hum. Mutat. |volume=9 |issue= 6 |pages= 477–99 |year= 1997 |pmid= 9195222 |doi= 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-# |doilabel=10.1002/(SICI)1098-1004(1997)9:6477::AID-HUMU13.0.CO;2-#
*cite journal | author=Ständer M, Naumann U, Wick W, Weller M |title=Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth. |journal=Cell Tissue Res. |volume=296 |issue= 2 |pages= 221–7 |year= 1999 |pmid= 10382266 |doi=
*cite journal | author=Kurpakus Wheater M, Kernacki KA, Hazlett LD |title=Corneal cell proteins and ocular surface pathology. |journal=Biotechnic & histochemistry : official publication of the Biological Stain Commission |volume=74 |issue= 3 |pages= 146–59 |year= 1999 |pmid= 10416788 |doi=
*cite journal | author=Pescucci C, Longo I, Bruttini M, "et al." |title=Type-IV collagen related diseases. |journal=J. Nephrol. |volume=16 |issue= 2 |pages= 314–6 |year= 2003 |pmid= 12768082 |doi=
*cite journal | author=Torra R, Tazón-Vega B, Ars E, Ballarín J |title=Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure. |journal=Nephrol. Dial. Transplant. |volume=19 |issue= 10 |pages= 2429–32 |year= 2005 |pmid= 15280517 |doi= 10.1093/ndt/gfh435
*cite journal | author=Rana K, Wang YY, Buzza M, "et al." |title=The genetics of thin basement membrane nephropathy. |journal=Semin. Nephrol. |volume=25 |issue= 3 |pages= 163–70 |year= 2005 |pmid= 15880327 |doi=
*cite journal | author=Maziers N, Dahan K, Pirson Y |title= [From Alport syndrome to benign familial hematuria: clinical and genetic aspect] |journal=Nephrol. Ther. |volume=1 |issue= 2 |pages= 90–100 |year= 2006 |pmid= 16895672 |doi= 10.1016/j.nephro.2005.03.005
*cite journal | author=Kamagata Y, Mattei MG, Ninomiya Y |title=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. |journal=J. Biol. Chem. |volume=267 |issue= 33 |pages= 23753–8 |year= 1992 |pmid= 1429714 |doi=
*cite journal | author=Mariyama M, Zheng K, Yang-Feng TL, Reeders ST |title=Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. |journal=Genomics |volume=13 |issue= 3 |pages= 809–13 |year= 1992 |pmid= 1639407 |doi=
*cite journal | author=Gupta S, Batchu RB, Datta K |title=Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface. |journal=Eur. J. Cell Biol. |volume=56 |issue= 1 |pages= 58–67 |year= 1992 |pmid= 1724753 |doi=
*cite journal | author=Sanes JR, Engvall E, Butkowski R, Hunter DD |title=Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere. |journal=J. Cell Biol. |volume=111 |issue= 4 |pages= 1685–99 |year= 1990 |pmid= 2211832 |doi=
*cite journal | author=Gunwar S, Saus J, Noelken ME, Hudson BG |title=Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen. |journal=J. Biol. Chem. |volume=265 |issue= 10 |pages= 5466–9 |year= 1990 |pmid= 2318822 |doi=
*cite journal | author=Hernandez MR, Igoe F, Neufeld AH |title=Extracellular matrix of the human optic nerve head. |journal=Am. J. Ophthalmol. |volume=102 |issue= 2 |pages= 139–48 |year= 1986 |pmid= 2426947 |doi=
*cite journal | author=Murata K, Motayama T, Kotake C |title=Collagen types in various layers of the human aorta and their changes with the atherosclerotic process. |journal=Atherosclerosis |volume=60 |issue= 3 |pages= 251–62 |year= 1986 |pmid= 3089234 |doi=
*cite journal | author=Glant TT, Hadházy C, Mikecz K, Sipos A |title=Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II. |journal=Histochemistry |volume=82 |issue= 2 |pages= 149–58 |year= 1985 |pmid= 3997552 |doi=
*cite journal | author=Uscanga L, Kennedy RH, Stocker S, "et al." |title=Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas. |journal=Digestion |volume=30 |issue= 3 |pages= 158–64 |year= 1984 |pmid= 6389236 |doi=
*cite journal | author=Sundarraj N, Willson J |title=Monoclonal antibody to human basement membrane collagen type IV. |journal=Immunology |volume=47 |issue= 1 |pages= 133–40 |year= 1982 |pmid= 6811420 |doi=
*cite journal | author=Hahn E, Wick G, Pencev D, Timpl R |title=Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin. |journal=Gut |volume=21 |issue= 1 |pages= 63–71 |year= 1980 |pmid= 6988303 |doi=

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