DISEASES

Disease-gene associations mined from literature

Literature associating TTLL5 and cone-rod dystrophy

TTLL5 [ENSP00000298832]

Tubulin tyrosine ligase-like family, member 5; Polyglutamylase which preferentially modifies alpha- tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction; Tubulin tyrosine ligase family

Synonyms:  TTLL5,  TTLL5p,  hTTLL5,  G3V2J9,  G3V4R8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM