基因名称：DYNC2H1 （dynein cytoplasmic 2 heavy chain 1）
别名： ATD3,DHC2,DHC1b,DNCH2,DYH1B,SRTD3,SRPS2B,hdhc11
基因ID：79659
Chromosome(GRCh37) ：11 Start: 102980160 End: 103350591 Strand:
信号通路：
靶向药：
化疗药：
简介：这个基因编码一个大的细胞质动力蛋白，它参与纤毛的逆行运输，并在鞭毛内运输中发挥作用，这是纤毛/鞭毛组装所必需的过程。该基因的突变引起与原发性纤毛功能改变有关的异质性疾病谱，常涉及多指畸形、骨骼发生和多囊肾。选择性剪接导致编码不同蛋白质的多个转录变体。[由RefSeq提供，2010年1月]This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
DYNC2H1突变与药物：
