TBC1D4, also known as the Akt substrate AS160, was initially identified as an Akt substrate containing a GTPase-activating domain that regulates GLUT4 trafficking, with activation following insulin stimulation. TBC1D4 truncations in humans is a major cause of dominant inherited insulin resistance. The loss of TBC1D4 results in the accumulation of GLUT4 in compartments that are primed for fusion in basal adipocytes.
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Protein Aliases: Acrg embryonic lethality minimal region ortholog; Akt substrate of 160 kDa; AS160; BUB2; CDC16) domain-containing protein; TBC (Tre-2; TBC (Tre-2, BUB2, CDC16) domain-containing protein; TBC1 domain family member 4; TBC1 domain family, member 4
Gene Aliases: 5930406J04Rik; A930035N22; AS160; AV295684; KIAA0603; NIDDM5; TBC1D4