SLC6A19

SLC6A19 is a gene that provides instructions for making a protein that is found primarily in the kidneys and intestines. This protein, called B^0AT1, is involved in the absorption of certain types of amino acids from the diet. Amino acids are the building blocks of proteins.

Function

The SLC6A19 gene provides instructions for making a protein that is found primarily in the kidneys and intestines. This protein, called B^0AT1, is involved in the absorption of certain types of amino acids from the diet. Amino acids are the building blocks of proteins.

Clinical significance

Mutations in the SLC6A19 gene cause Hartnup disorder, a condition that affects the body's ability to absorb certain amino acids from the diet. This disorder is characterized by a skin rash, difficulty coordinating movements, and psychiatric symptoms.

See also

• Hartnup disease
• SLC6A20
• SLC6A18

External links

• SLC6A19 at NCBI
• SLC6A19 at Genetics Home Reference

SLC6A19 Resources
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