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DYNC2H1

Official Full Name
dynein cytoplasmic 2 heavy chain 1
Organism
Homo sapiens
GeneID
79659
Background
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]
Synonyms
ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11;

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