Entrez gene ID | | 79659 |
Official gene symbol | | DYNC2H1 |
Full name | | dynein, cytoplasmic 2, heavy chain 1 |
Aliases | | ,ATD3,DHC1b,DHC2,DNCH2,DYH1B,FLJ11756,hdhc11, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11q21-q22.1 |
Gene position | | 102980160 - 103350591 Map Viewer |
Gene orientation | | plus |
Gene size | | 370432 bp |
Gene sequence |
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OMIM ID | | 603297 |
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