Description
Product Characteristics: Shank proteins make up a family of scaffold proteins identified through their interaction with a variety of membrane and cytoplasmic proteins (1). Shank proteins at postsynaptic sites of excitatory synapses play roles in signal transmission into the postsynaptic neuron. Studies suggest that Shank2 is expressed in the neurons of the developing retina, and could play a role in the neuronal differentiation of the developing retina (2). Other recent studies suggest that the disruption of glutamate receptors at the Shank postsynaptic platform could contribute to the destruction of the postsynaptic density, which underlies the synaptic dysfunction and loss in Alzheimer's disease (3).
Target Information: This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]