Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.

Abstract excerpt

IQSEC2 gene mutations are associated with epilepsy, autism, and intellectual disability. The primary function IQSEC2, mediated via its Sec 7 domain, is to act as a guanine nucleotide exchange factor for ARF6. We sought to develop a molecular model, which may explain the aberrant Sec 7 activity on ARF6 of different human IQSEC2 mutations. We integrated experimental data of IQSEC2 mutants with protein structure...

Topics

• Humans
• ADP-Ribosylation Factors
• ADP-Ribosylation Factor 6
• Guanine Nucleotide Exchange Factors
• Mutation
• Models, Molecular
• Amino Acids