Aliases for DYNC2H1 Gene
External Ids for DYNC2H1 Gene
Previous HGNC Symbols for DYNC2H1 Gene
Previous GeneCards Identifiers for DYNC2H1 Gene
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]
GeneCards Summary for DYNC2H1 Gene
DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1) is a Protein Coding gene. Diseases associated with DYNC2H1 include Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DNAH5.
UniProtKB/Swiss-Prot for DYNC2H1 Gene
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 (By similarity).