DISEASES

Disease-gene associations mined from literature

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Literature associating TTLL11 and hereditary hemorrhagic telangiectasia

TTLL11 [ENSP00000321346]

Tubulin polyglutamylase TTLL11; 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).

Synonyms:  TTLL11,  TTLL11p,  hTTLL11,  A0A087WU58,  A0A087WUG8 ...

Linkouts:  STRING  Pharos  UniProt

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.