Autism and the Scaffolding Protein Neurobeachin

Abstract

Autism is a group of early onsets, diverse, lifelong, neurodevelopmental conditions that affect social interaction, verbal and non-verbal communications as well as behavior. It is a multifactorial condition, which results from the interaction of environmental and genetic factors. A number of proteins are identified as autism related proteins such as Neurobeachin (NBEA), a scaffolding protein belonging to BEACH domain containing proteins (BDCPs), a family of proteins found in all eukaryotes. Humans BDCPs family includes nine proteins that share the characteristic of containing BEACH and WD repeats domains. Mutation of each one of the genes encoding these proteins leads to distinct disease condition. NBEA mutation includes deletion, translocation, inversion or duplication and is associated to autism spectrum disorder (ASD).