Sonus complete TRPC3 may also be indirectly involved in Williams-Beuren syndrome, a neurodevelopmental disorder associated with distinctive physical characteristics, moderate mental retardation, strong emotional activity, heart or blood vessel problems, and hypercalcemia. The main genetic defect underlies deletion of the transcription factor IIi gene encoding TFII-I, which normally suppresses cell surface expression of TRPC3. TFII-I mutations increase expression of TRPC3, which results in TRPC3 gain-of-function phenotype.
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