Aliases for COL6A5 Gene
External Ids for COL6A5 Gene
Previous HGNC Symbols for COL6A5 Gene
Previous GeneCards Identifiers for COL6A5 Gene
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for COL6A5 Gene
COL6A5 (Collagen Type VI Alpha 5 Chain) is a Protein Coding gene. Diseases associated with COL6A5 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are RET signaling and Protein digestion and absorption. An important paralog of this gene is COL6A6.
UniProtKB/Swiss-Prot for COL6A5 Gene
Collagen VI acts as a cell-binding protein.