Aliases for DYNC2LI1 Gene
External Ids for DYNC2LI1 Gene
Previous GeneCards Identifiers for DYNC2LI1 Gene
This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
GeneCards Summary for DYNC2LI1 Gene
DYNC2LI1 (Dynein Cytoplasmic 2 Light Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2LI1 include Short-Rib Thoracic Dysplasia 15 With Polydactyly and Ellis-Van Creveld Syndrome. Among its related pathways are Vasopressin-regulated water reabsorption and Organelle biogenesis and maintenance. GO annotations related to this gene include motor activity.
UniProtKB/Swiss-Prot for DYNC2LI1 Gene
Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length.