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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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