DISEASES

Disease-gene associations mined from literature

Literature associating TTLL6 and Joubert syndrome 33

TTLL6 [ENSP00000377043]

Tubulin polyglutamylase TTLL6; Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA-binding activity of CGAS.

Synonyms:  TTLL6,  TTLL6p,  hTTLL6,  F6QD81,  F8W896 ...

Linkouts:  STRING  Pharos  UniProt  OMIM