Aliases for COL19A1 Gene
External Ids for COL19A1 Gene
Previous GeneCards Identifiers for COL19A1 Gene
This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL19A1 Gene
COL19A1 (Collagen Type XIX Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL19A1 include Megaesophagus and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL8A1.
UniProtKB/Swiss-Prot Summary for COL19A1 Gene
May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle.