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. Involved in the regulation of sy...[+]

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. Involved in the regulation of synaptic vesicle trafficking. [-]

             autosomal recessive nonsyndromic deafness
             autosomal recessive nonsyndromic deafness 86
             autosomal dominant nonsyndromic deafness 65
             DOORS syndrome
             developmental and epileptic encephalopathy 16

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD