The protein Shank3 has been associated with autism.
List of literature (Pubmed).
StressMarq offers a an antibody directed against rat Shank3 (SMC-336D) that cross-reacts with human and mouse Shank3 and works in western blotting (WB), immunohistochemistry (IHC) and immunoprecipitation (IP).
Shank proteins make up a family of scaffold proteins identified through their interaction with a variety of membrane and cytoplasmic proteins (3). Shank proteins at postsynaptic sites of excitatory synapses play roles in signal transmission into the postsynaptic neuron. Shank proteins are also crucial in receptor tyrosine kinase signaling; specifically, Shank3 can mediate Erk-MAPK and P13K signaling which is crucial for tubule formation (4). Shank3 is also one of the latest genes to be associated with autism. A mutation of a single copy of Shank3 on chromosome 22q13 can result in language and/or social communication disorders (5).
Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. (6)
1. Hille B. (2001) Ion Channels of Excitable Membranes, 3rd Ed., Sinauer Associated Inc.: Sunderland, MA USA.
3. Sheng M., and Kim E. (2000) Journal of Cell Science. 113: 1851-1856.
4. Schuetz G., et al. (2004) JCB. 167(5): 645-952.
5. Durand C.M., et al. (2007) Nature Genetics. 39: 25-27.