SLC38A5

SLC38A5 is a gene that encodes a protein in the human body. This protein is a member of the solute carrier family 38, which includes sodium-coupled neutral amino acid transporters. The SLC38A5 gene is located on the X chromosome and is expressed in various tissues, including the brain and placenta.

Function

The protein encoded by the SLC38A5 gene is a sodium-coupled neutral amino acid transporter. It plays a crucial role in the transport of amino acids across the cell membrane. This protein is particularly important in the brain, where it helps to regulate the levels of amino acids, which are essential for neurotransmitter synthesis and maintenance of the blood-brain barrier.

Clinical Significance

Mutations in the SLC38A5 gene have been associated with various medical conditions. For example, some studies have suggested a link between SLC38A5 mutations and neurodevelopmental disorders. However, more research is needed to fully understand the clinical significance of this gene.

Research

Research on the SLC38A5 gene is ongoing, with scientists seeking to better understand its function and the effects of its mutations. This research could potentially lead to new treatments for diseases associated with this gene.

See Also

• Solute carrier family
• Amino acid transporter
• Neurodevelopmental disorders

References

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