SLC3A1

SLC3A1 is a gene that provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. This protein, called rBAT, is primarily found in the kidneys and intestines. The rBAT protein forms a complex with another protein to transport certain types of amino acids into cells. These amino acids, which are the building blocks of proteins, are used by cells to produce energy and to make other necessary compounds.

Function

The SLC3A1 gene provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. This protein, called rBAT, is primarily found in the kidneys and intestines. The rBAT protein forms a complex with another protein to transport certain types of amino acids into cells. These amino acids, which are the building blocks of proteins, are used by cells to produce energy and to make other necessary compounds.

Clinical significance

Mutations in the SLC3A1 gene cause cystinuria, a condition characterized by the buildup of a certain type of amino acid in the kidneys and bladder. This buildup can lead to the formation of cystine stones, which can cause pain and other complications.

See also

• Cystinuria
• SLC7A9

External links

• SLC3A1 at Genetics Home Reference
• SLC3A1 at National Center for Biotechnology Information

SLC3A1 Resources
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