DYNC2H1 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, Jan 2010]

DYNC2H1 Details

Gene Symbol : DYNC2H1

Gene Name : Dynein cytoplasmic 2 heavy chain 1

Chromosome : CHR 11: 103,109,430-103,479,862

Locus : 11q22.3

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ARAP1 Summary

The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

ARAP1 Details

Gene Symbol : ARAP1

Gene Name : ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

Chromosome : CHR 11: 727,523,88-726,850,68

Locus : 11q13.4

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