AATF
Description
The AAT1 gene, also known as SLC7A1, provides instructions for creating a protein called the large neutral amino acid transporter 1. This protein is found in the cell membranes of various tissues, including the brain, intestines, and kidneys. Its primary function is to transport certain amino acids, including leucine, isoleucine, valine, phenylalanine, and tryptophan, across cell membranes. This transport is essential for various processes such as protein synthesis, neurotransmitter production, and energy metabolism.
Associated Diseases
- Hartnup disorder: A rare genetic disorder characterized by impaired absorption of neutral amino acids, leading to neurological and skin problems.
- Cystinuria: A genetic disorder where the body cannot properly reabsorb cystine from urine, causing kidney stones.
- Lysinuric protein intolerance: A disorder marked by the inability to properly absorb lysine and arginine, resulting in growth retardation and other complications.
- Maple syrup urine disease: A rare genetic disorder that disrupts the metabolism of branched-chain amino acids, leading to severe neurological damage.
Did you know?
The AAT1 protein is thought to be involved in the transport of L-tryptophan, a precursor to serotonin, which plays a crucial role in mood regulation.
