SLC2A4

Description

The SLC2A4 (solute carrier family 2 member 4) is a protein-coding gene located on chromosome 17.

Glucose transporter type 4 (GLUT4), also known as solute carrier family 2, facilitated glucose transporter member 4, is a protein encoded, in humans, by the SLC2A4 gene. GLUT4 is the insulin-regulated glucose transporter found primarily in adipose tissues and striated muscle (skeletal and cardiac). The first evidence for this distinct glucose transport protein was provided by David James in 1988. The gene that encodes GLUT4 was cloned and mapped in 1989. At the cell surface, GLUT4 permits the facilitated diffusion of circulating glucose down its concentration gradient into muscle and fat cells. Once within cells, glucose is rapidly phosphorylated by glucokinase in the liver and hexokinase in other tissues to form glucose-6-phosphate, which then enters glycolysis or is polymerized into glycogen. Glucose-6-phosphate cannot diffuse back out of cells, which also serves to maintain the concentration gradient for glucose to passively enter cells.

== Structure ==

Like all proteins, the unique amino acid arrangement in the primary sequence of GLUT4 is what allows it to transport glucose across the plasma membrane. In addition to the phenylalanine on the N-terminus, two Leucine residues and acidic motifs on the COOH-terminus are believed to play a key role in the kinetics of endocytosis and exocytosis.

=== Other GLUT proteins === There are 14 total GLUT proteins separated into 3 classes based on sequence similarities.

SLC2A4, also known as GLUT4, is an insulin-regulated glucose transporter that plays a crucial role in removing glucose from circulation. Its response to insulin is tightly controlled by its intracellular localization. In the absence of insulin, it remains sequestered within storage compartments inside muscle and fat cells. When insulin levels rise, SLC2A4 translocates from these compartments to the cell surface, where it facilitates glucose uptake from the bloodstream into the cell.

SLC2A4 is also known as GLUT4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing