Gene Symbol | DYNC2H1 |
Entrez Gene ID | 79659 |
Full Name | dynein cytoplasmic 2 heavy chain 1 |
Synonyms | ATD3,DHC1b,DHC2,DNCH2,DYH1B,SRPS2B,SRTD3,hdhc11 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) |