🧬 基因注释：COL22A1
官方名称：collagen type XXII alpha 1 chain
功能摘要：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].
- HNRNPC 综合评分: 0.546 · 证据 2 条
- HNRNPM 综合评分: 0.474 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- SRSF9 综合评分: 0.398 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- U2af1 综合评分: 0.310 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- Rnps1 综合评分: 0.274 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- NXF1 综合评分: 0.244 · 证据 1 条
- Rbpms 综合评分: 0.224 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- U2af2 综合评分: 0.198 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录