DISEASES

Disease-gene associations mined from literature

Literature associating TBC1D24 and early infantile epileptic encephalopathy 16

TBC1D24 [ENSP00000293970]

TBC1 domain family, member 24; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function; Deafness associated genes

Synonyms:  TBC1D24,  TBC1D24p,  hTBC1D24,  H3BNU1,  H3BTP5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM