NCBI Description of COL5A1
|This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.|
Community Annotation of COL5A1 Add / Edit COL5A1: Annotations
No community annotations yet for COL5A1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.