Aliases for DYNLT2B Gene
External Ids for DYNLT2B Gene
Previous HGNC Symbols for DYNLT2B Gene
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
GeneCards Summary for DYNLT2B Gene
DYNLT2B (Dynein Light Chain Tctex-Type 2B) is a Protein Coding gene. Diseases associated with DYNLT2B include Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is ENSG00000272741.
UniProtKB/Swiss-Prot Summary for DYNLT2B Gene
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. Required for proper retrograde ciliary transport.