SLC6A19 : solute carrier family 6 member 19
Description
The SLC6A19 gene, encodes a protein called the taurine transporter (TauT). This transporter is responsible for the uptake of taurine and beta-alanine into cells. Taurine is an amino acid-like compound involved in various cellular processes, including osmoregulation, antioxidant defense, and neurotransmission. Beta-alanine is a precursor to carnosine, a dipeptide with antioxidant and anti-inflammatory properties. The SLC6A19 gene plays a crucial role in maintaining cellular homeostasis and regulating the levels of these important compounds.
Associated Diseases
- Taurine Deficiency Syndrome: This rare genetic disorder is characterized by low taurine levels in the body, leading to a range of symptoms including seizures, developmental delays, and neurodevelopmental disorders.
- Carnosine Deficiency: While not a formally recognized disease, deficiencies in carnosine, due to impaired beta-alanine uptake, have been linked to impaired muscle function, increased oxidative stress, and potentially accelerated aging.
Did you know?
Studies have shown that taurine supplementation can improve exercise performance and muscle recovery, potentially due to its role in reducing oxidative stress and muscle damage.
