菜单 基因医生

该基因编码胶原家族成员，被认为有助于在收缩活动中稳定肌腱膜连接和加强骨骼肌附着。它属于胶原超家族中具有间断三螺旋（facit）亚群的纤维相关胶原，通过其c端胶原结构域与胶原纤维结合，并通过其n端非胶原结构域介导蛋白质-蛋白质相互作用。编码蛋白沉积在肌腱连接的基膜区，仅存在于肌肉、肌腱、心脏、关节软骨和皮肤的组织连接处。直系斑马鱼基因的敲除通过破坏肌腱膜连接诱导肌营养不良[由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]