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Gene : COL22A1 Homo sapiens

Name  ? collagen type XXII alpha 1 chain Cytological Location  8q24.23-q24.3
Brief Description  collagen type XXII alpha 1 chain
Description  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]
  • synonyms:
  • collagen, type XXII, alpha 1,
  • uc003yvd.3,
  • OTTHUMG00000150035,
  • COL22A1,
  • HGNC:22989,
  • NM_152888,
  • AF406780
  • identifiers:
  • 169044,
  • ENSG00000169436,
  • COL22A1

Genome feature

Region: gene ? Length: 325853  
Location: 8:138588235-138914087 reverse strand Cyto location: 8q24.23-q24.3


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Disease

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742 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results