Collagen type IV, alpha 6
This gene encodes a collagen component of basement membranes localized mainly in the glomerular basement membrane and mucous membrane, so from mutations results both leiomyomatosis (smooth muscle tumors) and Alport syndrome.
Genetests:
Related Diseases:
References:
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Heidet L et al. (1995) Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
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Zhou J et al. (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
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3. |
Oohashi T et al. (1995) Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes.
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Sugimoto M et al. (1994) 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.
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Oohashi T et al. (1994) 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.
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6. |
Zhou J et al. (1994) 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.
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7. |
Zhang X et al. (1996) Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.
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Ueki Y et al. (1998) Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
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9. |
NCBI article
NCBI 1288
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10. |
OMIM.ORG article
Omim 303631
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Orphanet article
Orphanet ID 120726
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12. |
Wikipedia article
Wikipedia EN (Collagen,_type_IV,_alpha_6)
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Update: Aug. 14, 2020