Background information
Autism susceptibility gene 2 protein (AUTS2) is strongly expressed in brain, skeletal muscle and kidney and is also expressed in placenta, lung and leukocytes. There are 2 isoforms produced by alternative splicing; isoform long and isoform short of 139 kDa and 136 kDa respectively. This gene is interrupted by a translocation breakpoint in a pair of autistic twins.