基因产物：细胞质动力蛋白重链1。

蛋白功能：该基因编码细胞质动力蛋白复合物的一个大的关键亚基（超过 530 kD），细胞质动力蛋白在细胞内运动中发挥重要作用，包括逆行轴突运输、蛋白质分选、细胞器运动和纺锤体动力学等[1-2]。

相关疾病：轴突20型腓骨肌萎缩症（AD）[3]；常染⾊体显性智⼒障碍13型（AD）（部分患儿可表现为 West 综合征 ，有些可有脑部结构异常，表现为 多小脑回畸形 、 无脑回畸形 等）[4-7]；下肢受累脊髓性肌萎缩1型（AD）[8]。

相关临床及基础研究：PubMed数据库（PMID:  34092403 (Brain Dev. 2021) ， 34803881 (Front Neurol. 2021) ， 28325891 (Sci Rep. 2017) ）。  


参考文献：

1. Vaisberg, E.A., M.P. Koonce, and J.R. McIntosh, Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. J Cell Biol, 1993. 123(4): p. 849-58.
2. Poirier, K., et al., Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet, 2013. 45(6): p. 639-47.
3. Weedon, M.N., et al., Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet, 2011. 89(2): p. 308-12.
4. Willemsen, M.H., et al., Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet, 2012. 49(3): p. 179-83.
5. Yang, H., et al., De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms. Front Neurol, 2021. 12: p. 733178.
6. Kolbjer, S., et al., Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects. Eur J Paediatr Neurol, 2021. 30: p. 71-81.
7. Epilepsy Phenome/Genome Project, E.K.C., Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia, 2021. 62(4): p. 973-983.
8. Harms, M.B., et al., Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology, 2012. 78(22): p. 1714-20.