Aliases for DYNC1LI2 Gene
External Ids for DYNC1LI2 Gene
Previous HGNC Symbols for DYNC1LI2 Gene
Previous GeneCards Identifiers for DYNC1LI2 Gene
Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]
GeneCards Summary for DYNC1LI2 Gene
DYNC1LI2 (Dynein Cytoplasmic 1 Light Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DYNC1LI2 include Bardet-Biedl Syndrome 7 and Retinitis Pigmentosa 3. Among its related pathways are Phagosome and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC1LI1.
UniProtKB/Swiss-Prot Summary for DYNC1LI2 Gene
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes.