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Gene information for DYNC2H1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79659
Official gene symbolDYNC2H1
Full namedynein, cytoplasmic 2, heavy chain 1
Aliases,ATD3,DHC1b,DHC2,DNCH2,DYH1B,FLJ11756,hdhc11,
Gene summaryThis 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]
LocationChromosome: 11   Locus: 11q21-q22.1
Gene position102980160 - 103350591  Map Viewer
Gene orientationplus
Gene size370432 bp
Gene sequence
OMIM ID603297