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Beschreibung

TBC1D1 is the first member of a family of proteins that contain the tbc box motif of 180-220 amino acids and may be related to cell growth and differentiation. The composition of TBC1D1 has the same function as a known regulator of insulin-mediated Glut4 translocation and may play a role in severe human obesity. An insulin-independent increase in glucose transport several hours after exercise has been attributed to TBC1D1 phosphorylation. The R125W mutation of TBC1D1 is thought to decrease skeletal muscle glucose transport and could be the main reason for the obesity that seems to be linked to this type of mutation.