SLC2A11
SLC2A11 is a gene that encodes a protein known as solute carrier family 2, facilitated glucose transporter member 11. This protein is a member of the solute carrier family of proteins, which are responsible for the transport of various substances across biological membranes.
Function[edit | edit source]
The SLC2A11 gene is primarily expressed in the liver and kidney, where it plays a crucial role in the regulation of glucose homeostasis. The protein encoded by this gene is a member of the glucose transporter type 1 (GLUT1) family, which is responsible for the facilitated diffusion of glucose across the plasma membrane.
Clinical Significance[edit | edit source]
Mutations in the SLC2A11 gene have been associated with various medical conditions. For instance, a mutation in this gene can lead to glucose transporter deficiency syndrome, a rare genetic disorder characterized by seizures, developmental delay, and movement disorders.
Research[edit | edit source]
Research on the SLC2A11 gene is ongoing, with scientists aiming to better understand its role in glucose homeostasis and its potential as a therapeutic target for diseases such as diabetes and obesity.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD