SLC7A9

SLC7A9 is a gene that provides instructions for making a protein that is a part of a system responsible for transporting certain molecules across cell membranes. This protein, known as b^0,+AT, is found primarily in the kidneys and intestines. It plays a crucial role in the reabsorption of certain amino acids, which are the building blocks of proteins.

Function

The SLC7A9 gene provides instructions for making a protein that is part of a system (known as the b^0,+ amino acid transport system) responsible for transporting certain molecules across cell membranes. This protein, known as b^0,+AT, is found primarily in the kidneys and intestines. It plays a crucial role in the reabsorption of certain amino acids, which are the building blocks of proteins.

Clinical significance

Mutations in the SLC7A9 gene cause cystinuria, a condition characterized by the buildup of a certain amino acid called cystine in the kidneys and bladder. This can lead to the formation of cystine stones, which can cause urinary tract obstruction, kidney damage, and other complications.

Genetics

The SLC7A9 gene is located on the long (q) arm of chromosome 19 at position 13.1. More precisely, the SLC7A9 gene is located from base pair 41,948,365 to base pair 41,965,365 on chromosome 19.

See also

• SLC7A9
• Cystinuria
• Amino acid
• Chromosome 19

References

SLC7A9 Resources
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