Literature associating TTC30B and Beemer-Langer syndrome
TTC30B [ENSP00000386181]
Tetratricopeptide repeat protein 30B; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.
Synonyms: TTC30B, TTC30Bp, hTTC30B, Q8N4P2, fleer ...