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 Cell cycle_Spindle assembly and chromosome separation and Transport to the Golgi and subsequent modification. 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.