DYNC2H1 siRNA – Cytoplasmic Dynein 2 Heavy Chain 1 Isoform 2 (Human)

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: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells. Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency. Defects in DYNC2H1 are the cause of short rib-polydactyly syndrome type 3 (SRPS3); also called Verma-Naumoff syndrome. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Belongs to the dynein heavy chain family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 11q21-q22.1

Cellular Component: Golgi apparatus; dynein complex; microtubule; apical part of cell; plasma membrane; motile primary cilium; axoneme; cytosol

Molecular Function: ATPase activity; motor activity; microtubule motor activity; ATP binding

Biological Process: asymmetric protein localization; dorsal/ventral pattern formation; organelle organization and biogenesis; forebrain development; cilium biogenesis; antigen processing and presentation of exogenous peptide antigen via MHC class II; positive regulation of smoothened signaling pathway; protein processing; determination of left/right symmetry; spinal cord motor neuron differentiation; Golgi organization and biogenesis; embryonic limb morphogenesis

Disease: Short-rib Thoracic Dysplasia 3 With Or Without Polydactyly