SLC4A11

SLC4A11 is a gene that in humans is encoded by the SLC4A11 protein. It is a member of the solute carrier family 4, which is involved in the transport of bicarbonate ions across the plasma membrane. Mutations in this gene have been associated with certain eye diseases, including congenital hereditary endothelial dystrophy and Fuchs endothelial corneal dystrophy.

Function

The SLC4A11 gene provides instructions for making a protein that is found in the cornea, which is the clear front surface of the eye. This protein is located in the endothelial cells, which form a thin layer at the back of the cornea. The SLC4A11 protein is involved in the movement of charged atoms (ions) across cell membranes, which is essential for maintaining the correct amount of water in cells. This function is critical in the cornea, where the balance of water and ions helps maintain the cornea's transparency and its ability to transmit light.

Clinical significance

Mutations in the SLC4A11 gene cause congenital hereditary endothelial dystrophy (CHED) and Fuchs endothelial corneal dystrophy (FECD). Both of these conditions affect the endothelial cells of the cornea. In CHED, the cornea becomes cloudy shortly after birth, leading to significant vision loss. In FECD, the cornea becomes cloudy later in life, also leading to vision loss.

See also

• Solute carrier family
• Congenital hereditary endothelial dystrophy
• Fuchs endothelial corneal dystrophy

External links

• NCBI Gene
• Genetics Home Reference

SLC4A11 Resources
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