Aliases for TCTEX1D2 Gene
External Ids for TCTEX1D2 Gene
Previous GeneCards Identifiers for TCTEX1D2 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 TCTEX1D2 Gene
TCTEX1D2 (Tctex1 Domain Containing 2) is a Protein Coding gene. Diseases associated with TCTEX1D2 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 Intraflagellar transport and Organelle biogenesis and maintenance. An important paralog of this gene is ENSG00000272741.
UniProtKB/Swiss-Prot for TCTEX1D2 Gene
Required for proper retrograde ciliary transport.