Disease-gene associations mined from literature

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 ...

Linkouts:  STRING  Pharos  UniProt