Aliases for TTC21B Gene
External Ids for TTC21B Gene
Previous GeneCards Identifiers for TTC21B Gene
This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
GeneCards Summary for TTC21B Gene
TTC21B (Tetratricopeptide Repeat Domain 21B) is a Protein Coding gene. Diseases associated with TTC21B include Nephronophthisis 12 and Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. An important paralog of this gene is TTC21A.
UniProtKB/Swiss-Prot Summary for TTC21B Gene
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity).