COL22A1 (Entrez ID: 169044)

Entrez Gene ID 169044
Official Gene Symbol COL22A1 (GeneCards)
Full name collagen type XXII alpha 1 chain
Location 8q24.23-q24.3
Other ids Vega : OTTHUMG00000150035
MIM : 610026
HGNC : HGNC:22989
Ensembl : ENSG00000169436
Other names None
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]

Variants

Found 22 variants in this database.