COL4A6 gene

collagen type IV alpha 6 chain

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, X-linked 6

From UniProt:

Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).

Deafness, X-linked, 6 (DFNX6): A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:300914]

Cytogenetic Location: Xq22.3, which is the long (q) arm of the X chromosome at position 22.3

Molecular Location: base pairs 108,155,607 to 108,439,497 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq22.3, which is the long (q) arm of the X chromosome at position 22.3
  • CXDELq22.3
  • DELXq22.3
  • DFNX6