COL22A1
Gene Information
- Official Symbol: COL22A1
- Official Name: collagen type XXII alpha 1 chain
- Aliases and Previous Symbols: N/A
- Entrez ID: 169044
- UniProt: Q8NFW1
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 12438
- Expression level (log2 read counts): -3.13