KAZN - kazrin, periplakin interacting protein Gene

中文名称：kazrin，periplakin 相互作用蛋白

种属: Homo sapiens

同用名: KAZ; C1orf196

关于 KAZN

功能概要

该基因编码的蛋白质在桥粒组装、细胞粘附、细胞骨架组织和表皮分化中发挥作用。该蛋白与桥粒蛋白和细胞连接蛋白 periplakin 共定位。一般来说，这种蛋白质定位于细胞核、桥粒、细胞膜和基于皮质肌动蛋白的结构。这种蛋白质的一些亚型也与微管相关。可变剪接导致编码不同异构体的多个转录变体。已描述了其他剪接变体，但尚未验证其生物学有效性。[RefSeq 提供，2011 年 8 月]

This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]