SLC2A4, GLUT4, Solute carrier family 2, facilitated glucose transporter member 4, Glucose transporter type 4, insulin-responsive, GLUT-4
This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008],disease:Defects in SLC2A4 may be a cause of noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. Defects in SLC2A4 may be a cause of certain post-receptor defects in NIDDM. The variant in position Ile-383 is found in a small number of NIDDM patients, but seems not to be found in nondiabetic subjects.,function:Insulin-regulated facilitative glucose transporter.,miscellaneous:Insulin-stimulated phosphorylation of TBC1D4 is required for GLUT4 translocation.,online information:GLUT4 entry,PTM:Sumoylated.,similarity:Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.,subcellular location:Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized. The dileucine internalization motif is critical for intracellular sequestration.,subunit:Binds to DAXX. Interacts via its N-terminus with SRFBP1.,tissue specificity:Skeletal and cardiac muscles, brown and white fat.,
