COL4A6

Chr XXLR

collagen type IV alpha 6 chain

Also known as: CXDELq22.3, DELXq22.3, DFNX6

NCBI Gene: 1288 ENSG00000197565 UniProt: Q14031 OMIM: 303631

The protein is a subunit of type IV collagen that forms the structural meshwork of basement membranes, particularly in the glomerular basement membrane of the kidney. Mutations cause X-linked deafness type 6, and the gene is highly constrained against loss-of-function variants (pLI 0.90, LOEUF 0.32). Inheritance is X-linked recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, X-linked 6MIM #300914

XLR

Clinical highlights

Gene-disease validity (ClinGen)

hearing loss, X-linked 6 · XLLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

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Mechanism