SHANK

2022-04-27: reference:

SHANK (SH3 and multiple ankyrin repeat domains protein) #

• Heterozygous loss-of-function mutations of SHANK2 have a near-complete penetrance in Autism!

  • SHANK2 mutations associated with Autism Spectrum Disorder cause hyperconnectivity of human neurons
    • R81X = ’nonsense mutation’ (control), DEL = SHANK2… knockout?
    • *significant increase in total synapse number in all SHANK2 mutants… increases in normalized dendrite length in all SHANK2 mutants

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  • TSC1/2 is actually somewhere around here, bound to SHANK via Actinin.