DYNC2H1

Name

dynein cytoplasmic 2 heavy chain 1

Type

protein-coding

Position

103,109,410–103,479,863 (+)

Aliases

ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11

Ensembl

ENSG00000187240

RefSeq RNA

NM_001080463.2, NM_001377.3, NM_024606.2, XM_006718903.3, XM_017018291.2

RefSeq protein

NP_001073932.1, NP_001368.2, XP_006718966.1, XP_016873780.1, XP_016873781.1

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].