Aliases for COL6A6 Gene
External Ids for COL6A6 Gene
Previous GeneCards Identifiers for COL6A6 Gene
This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]
GeneCards Summary for COL6A6 Gene
COL6A6 (Collagen Type VI Alpha 6 Chain) is a Protein Coding gene. Diseases associated with COL6A6 include Nail Disorder, Nonsyndromic Congenital, 8 and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are Signaling by GPCR and Degradation of the extracellular matrix. An important paralog of this gene is COL6A5.
UniProtKB/Swiss-Prot Summary for COL6A6 Gene
Collagen VI acts as a cell-binding protein.