External Ids for COL5A3 Gene
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 thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL5A3 Gene
COL5A3 (Collagen, Type V, Alpha 3) is a Protein Coding gene. Diseases associated with COL5A3 include arterial tortuosity syndrome and pulmonary valve stenosis. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL5A3 Gene
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin