Function
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system, facilitating the assembly of these organelles. Involved in the regulation of ciliary length.
Gene References into Functions
- depletion of DYNC2LI1 induced altered cilia morphology with broadened ciliary tips and accumulation of intraflagellar transport complexes (IFT-B) complex proteins in accordance with retrograde IFT defects. PMID: 26130459
- DYNC2LI1 is essential for dynein-2 complex stability and that mutations in DYNC2LI1 result in variable length, including hyperelongated, cilia, Hedgehog pathway impairment and ciliary IFT accumulations, causing short rib polydactyly syndrome. PMID: 26077881
Involvement in disease
Short-rib thoracic dysplasia 15 with polydactyly (SRTD15)
Subcellular Location
Golgi apparatus. Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Protein Families
Dynein light intermediate chain family
Tissue Specificity
Expressed in bone, brain, kidney, and cartilage. Lower expression in heart, liver, lung, placenta and thymus.
