SLC7A14

SLC7A14 is a gene that encodes a protein in humans. It is a member of the solute carrier family 7, which are integral membrane proteins that transport amino acids across the plasma membrane. The SLC7A14 gene is located on chromosome 3 in humans.

Function

The protein encoded by the SLC7A14 gene is a member of the solute carrier family. These proteins are responsible for the transport of various substances across the plasma membrane. Specifically, SLC7A14 is thought to be involved in the transport of amino acids, the building blocks of proteins. However, the exact function of this protein is not yet fully understood.

Clinical significance

Mutations in the SLC7A14 gene have been associated with retinitis pigmentosa, a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina. This is the part of the eye that is responsible for capturing images from the visual field. People with retinitis pigmentosa experience a gradual decline in their vision because the photoreceptor cells (rods and cones) die.

Research

Research into the SLC7A14 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene lead to retinitis pigmentosa and whether there are any potential treatments that could target this gene.

See also

• Solute carrier family
• Retinitis pigmentosa
• Amino acid transporter
• Protein