SLC6A19

From WikiMD's Wellness Encyclopedia

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]

SLC6A19 Resources

Contributors: Prab R. Tumpati, MD