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 Salmonella infection (KEGG) and Vasopressin-regulated water reabsorption. GO annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DYNC1H1.
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).