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

          DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65
          DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYND
          DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16
          MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME

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