InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL4A6

Summary

InnateDB Protein

IDBP-81942.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL4A6

Protein Name

collagen, type IV, alpha 6

Synonyms

CXDELq22.3; DELXq22.3; DFNX6;

Species

Homo sapiens

Ensembl Protein

ENSP00000334733

InnateDB Gene

IDBG-81938 (COL4A6)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Note=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) [MIM:300914]: 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. {ECO:0000269PubMed:23714752}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.