SLC2A4
SLC2A4 (GLUT4) is an example of the relevance of the membrane-transport paradigm is the uptake of glucose by muscle and adipose tissue. This process depends on the localization of GLUT4 glucose transporter on the surface of cells.
GLUT4 molecules reside in intracellular stores and, on stimulation by insulin, are translocated to the plasma membrane through fusion of the storage vesicles.
There is a precedent for defective transport and translocation of GLUT4 as a cause of insulin resistance, implying that elucidation of the mechanisms of glucose-transporter transport may reveal new candidate genes involved in type 2 diabetes mellitus.
Pathology
germline mutations of GLUT4 in non-insulin dependent diabetes mellitus (NIDDM) (MIM.125853)
References
Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: #11027745#