Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.


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

Related Diseases:

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



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.


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.


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.


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.


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.


Zhou J et al. (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.


Zhang X et al. (1996) Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.


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.

Update: Sept. 26, 2018