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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
DYNC2H1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
DYNC2H1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
DYNC2H1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
DYNC2H1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
DYNC2H1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : DYNC2H1
Gene Name : Dynein cytoplasmic 2 heavy chain 1
Chromosome : CHR 11: 103,109,430-103,479,862
Locus : 11q22.3
Alt. Genes : MKRN3-AS1
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