Background information
IQSEC2 is a 1,478 amino acid protein that belongs to the BRAG family and contains one IQ domain, one PH domain and a SEC7 domain. Localizing to the cytoplasm, IQSEC2 is expressed in brain, kidney and small intestine, with weaker levels of expression in placenta, pancreas, ovary, prostate and liver. IQSEC2 is a component of the postsynaptic density at excitatory synapses, and interacts with ARF family members as a guanine nucleotide exchange factor. Through the activation of ARF substrates, IQSEC2 may play a crucial role in cytoskeletal and synaptic organization. The gene encoding IQSEC2 maps to the human X chromosome. Defects to the IQSEC2 gene have been linked to mental retardation X-linked type 1 (MRX1), a condition characterized by decreased intellectual function. IQSEC2 exists as three isoforms due to alternative splicing events.
