Collagen, type IV, alpha 6 explained
Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.[1] [2]
This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene.
Further reading
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- Oohashi T, Ueki Y, Sugimoto M, Ninomiya Y . Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes . J. Biol. Chem. . 270 . 45 . 26863–7 . 1995 . 7592929 . 10.1074/jbc.270.45.26863 . free .
- Sugimoto M, Oohashi T, Ninomiya Y . The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters . Proc. Natl. Acad. Sci. U.S.A. . 91 . 24 . 11679–83 . 1994 . 7972123 . 10.1073/pnas.91.24.11679 . 45295 . 1994PNAS...9111679S . free .
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- Oohashi T, Sugimoto M, Mattei MG, Ninomiya Y . Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5 . J. Biol. Chem. . 269 . 10 . 7520–6 . 1994 . 10.1016/S0021-9258(17)37317-9 . 8125972 . free .
- Zhou J, Ding M, Zhao Z, Reeders ST . Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains . J. Biol. Chem. . 269 . 18 . 13193–9 . 1994 . 10.1016/S0021-9258(17)36818-7 . 8175748 . free .
- Zhang X, Zhou J, Reeders ST, Tryggvason K . Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis . Genomics . 33 . 3 . 473–9 . 1996 . 8661006 . 10.1006/geno.1996.0222 .
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Notes and References
- Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST . Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors . Science . 261 . 5125 . 1167–9 . Sep 1993 . 8356449 . 10.1126/science.8356449 . 1993Sci...261.1167Z .
- Web site: Entrez Gene: COL4A6 collagen, type IV, alpha 6.