SHANK3 Gene

The SHANK3 gene is associated with a number of cognitive disorders including autism.

The SHANK3 gene is associated with a number of cognitive disorders including autism.

The SHANK3 (SH3 and multiple ankyrin repeat domains 3) gene spans 60 kb and contains 22 exons. SHANK3 is associated with a number of severe cognitive deficits, including language and speech disorders, mental retardation, and autism. SHANK3 proteins interact with neuroligins, cell surface proteins that binds to synaptic membranes and facilitate neurotransmission.