1.2. Shank family
The Shank family consists of postsynaptic scaffolding proteins central
to the formation and function of protein complexes at the postsynaptic
density (PSD) \cite{RN31,RN5}. There are three SHANK
isoforms (SHANK1, SHANK2, SHANK3), all of which have been linked to ASD \cite{RN31,RN5}, with a deficiency in SHANK3, a gene
that maps to the chromosomal region critical to 22q13.3 deletion
syndrome, found in close to 1% of ASD cases \cite{RN33,RN32}. However, all three genes are subject to alternative splicing and
express a number of protein isoforms with unique interaction domains,
complicating a simple mechanistic model of their role in the disorder.
Mouse models of specific mutations or loss-of-function of specific
protein isoforms have been useful in untangling their roles at the
synaptic and circuit level \cite{RN34}.