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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:

Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
COL4A5
COL4A6
Hereditary leiomyomatosis and renal cell cancer
COL4A6
FH

References:

1.

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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2.

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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4.

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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5.

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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8.

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 external link
10.

OMIM.ORG article

Omim 303631 external link
11.

Orphanet article

Orphanet ID 120726 external link
12.

Wikipedia article

Wikipedia EN (Collagen,_type_IV,_alpha_6) external link
Update: Aug. 14, 2020
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