COL4A5

Collagen, type IV, alpha 5 (Alport syndrome), also known as COL4A5, is a human gene.

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. 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. Three transcript variants have been identified for this gene. [cite web | title = Entrez Gene: COL4A5 collagen, type IV, alpha 5 (Alport syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1287| accessdate = ]

ee also

* Collagen
* Type-IV collagen

References

Further reading

PBB_Further_reading
citations =
*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=Zhou J, Hertz JM, Leinonen A, Tryggvason K |title=Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. |journal=J. Biol. Chem. |volume=267 |issue= 18 |pages= 12475–81 |year= 1992 |pmid= 1352287 |doi=
*cite journal | author=Renieri A, Seri M, Myers JC, "et al." |title=De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. |journal=Hum. Mol. Genet. |volume=1 |issue= 2 |pages= 127–9 |year= 1993 |pmid= 1363780 |doi=
*cite journal | author=Knebelmann B, Deschenes G, Gros F, "et al." |title=Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. |journal=Am. J. Hum. Genet. |volume=51 |issue= 1 |pages= 135–42 |year= 1992 |pmid= 1376965 |doi=
*cite journal | author=Ghebrehiwet B, Peerschke EI, Hong Y, "et al." |title=Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV. |journal=J. Leukoc. Biol. |volume=51 |issue= 6 |pages= 546–56 |year= 1992 |pmid= 1377218 |doi=
*cite journal | author=Zhou J, Barker DF, Hostikka SL, "et al." |title=Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. |journal=Genomics |volume=9 |issue= 1 |pages= 10–8 |year= 1991 |pmid= 1672282 |doi=
*cite journal | author=Hostikka SL, Eddy RL, Byers MG, "et al." |title=Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 4 |pages= 1606–10 |year= 1990 |pmid= 1689491 |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=Zhou J, Hostikka SL, Chow LT, Tryggvason K |title=Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome. |journal=Genomics |volume=9 |issue= 1 |pages= 1–9 |year= 1991 |pmid= 2004755 |doi=
*cite journal | author=Myers JC, Jones TA, Pohjolainen ER, "et al." |title=Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. |journal=Am. J. Hum. Genet. |volume=46 |issue= 6 |pages= 1024–33 |year= 1990 |pmid= 2339699 |doi=
*cite journal | author=Barker DF, Hostikka SL, Zhou J, "et al." |title=Identification of mutations in the COL4A5 collagen gene in Alport syndrome. |journal=Science |volume=248 |issue= 4960 |pages= 1224–7 |year= 1990 |pmid= 2349482 |doi=
*cite journal | author=Pihlajaniemi T, Pohjolainen ER, Myers JC |title=Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV). |journal=J. Biol. Chem. |volume=265 |issue= 23 |pages= 13758–66 |year= 1990 |pmid= 2380186 |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=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=Matsubara T, Trüeb B, Fehr K, "et al." |title=The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen. |journal=Exp. Cell Biol. |volume=52 |issue= 3 |pages= 159–69 |year= 1984 |pmid= 6386565 |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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