Aliases for COL22A1 Gene
External Ids for COL22A1 Gene
Previous GeneCards Identifiers for COL22A1 Gene
This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]
GeneCards Summary for COL22A1 Gene
COL22A1 (Collagen Type XXII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL22A1 include Diffuse Cutaneous Systemic Sclerosis. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL4A5.
UniProtKB/Swiss-Prot for COL22A1 Gene
Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.