DISEASES

Disease-gene associations mined from literature

Literature associating TTLL11 and hereditary hemorrhagic telangiectasia

TTLL11 [ENSP00000321346]

Tubulin tyrosine ligase-like family, member 11; Polyglutamase which preferentially modifies alpha- tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Generates long side-chains (By similarity); Belongs to the tubulin--tyrosine ligase family.

Synonyms:  TTLL11,  TTLL11p,  hTTLL11,  F8W6M1,  Q8NHH0 ...

Linkouts:  STRING  Pharos  UniProt