SLC6A9

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Description

SLC6A9, also known as the taurine transporter, is a protein responsible for the uptake of taurine, an amino acid crucial for various cellular functions. This gene is primarily expressed in the central nervous system, playing a vital role in regulating neurotransmission and neuronal development. Taurine, transported by SLC6A9, contributes to neuroprotection, neuronal excitability modulation, and overall brain function.

Associated Diseases

• Taurine deficiency
• Epilepsy
• Neurodevelopmental disorders
• Retinal degeneration
• Cardiomyopathy
• Autism spectrum disorder

Did you know?

Taurine is found in high concentrations in the brain and retina, suggesting its crucial role in neuronal function.