COL22A1 - collagen type XXII alpha 1 chain Gene

中文名称：XXII 型胶原蛋白 alpha 1 链

种属: Homo sapiens

关于 COL22A1

功能概要

该基因编码胶原蛋白家族的成员，该家族被认为有助于稳定肌腱连接并在收缩活动期间加强骨骼肌附着。它属于胶原蛋白超家族中具有间断三螺旋 (FACIT) 子集的原纤维相关胶原蛋白，通过其 C 端胶原结构域与胶原纤维相关，并通过其 N 端非胶原结构域介导蛋白质-蛋白质相互作用。编码的蛋白质沉积在肌腱交界处的基底膜区，肌腱交界处仅存在于肌肉、肌腱、心脏、关节软骨和皮肤的组织交界处。直向同源斑马鱼基因的敲低会通过破坏肌腱连接而诱发肌营养不良症。[RefSeq 提供，2017 年 5 月]

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]