Disease-gene associations mined from literature

Literature associating TBCE and distal hereditary motor neuronopathy type 7B

TBCE [ENSP00000439170]

Tubulin-specific chaperone E; Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network.

Synonyms:  TBCE,  Q15813,  Q15813p,  hQ15813,  4ICU ...

Linkouts:  STRING  Pharos  UniProt