Gene Symbol | DYNC1H1 |
Entrez Gene ID | 1778 |
Full Name | dynein cytoplasmic 1 heavy chain 1 |
Synonyms | CMT2O,DHC1,DHC1a,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,SMALED1,p22 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3); Mental retardation, autosomal dominant 13, 614563 (3); Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3) |