Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations
Abstract
•Crystal structure of TSC2 GAP domain and model of human Rheb-TSC2 GAP complex•Key residues for activity are required for catalysis and specificity•Partial loss of function of TSC2 patient variants without definite diagnosis of TSC•TSC2 GAP domain interacts with additional domains in TSC2 The TSC complex is the cognate GTPase-activating protein (GAP) for the small GTPase Rheb and a crucial regulator of the mechanistic target of rapamycin complex...
Paper Details
Title
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations
Published Date
Aug 1, 2020
Journal
Volume
28
Issue
8
Pages
933 - 942.e4
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