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Search results 1 to 1 out of 1 for Ttc21b

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: This entry includes tetratricopeptide repeat proteins 21A (TTC21A) and 21B (TTC21B), and other homologues with numerous tetratricopeptide repeats. TTC21B is a component of the IFT complex A (IFT-A), which is required for retrograde ciliary transport. Intraflagellar transport (IFT) is required for cilium assembly and trafficking within cilia []. Several diseases results from mutations in the TTC21B gene including nephronophthisis 12, short-rib thoracic dysplasia 4 with or without polydactyly, and Joubert syndrome 11 [].