SLC6A14
SLC6A14 Gene: A Key Player in Health and Disease
Description
The SLC6A14 gene encodes the solute carrier family 6 (neurotransmitter transporter, creatine), member 14 protein, also known as the creatine transporter. This protein is responsible for transporting creatine, an essential nutrient for energy production in cells, across the blood-brain barrier and into the brain.
Associated Diseases
Mutations in the SLC6A14 gene have been associated with several neurological disorders, including:
- Creatine Transporter Deficiency Syndrome (CTDS): A rare genetic disorder characterized by low levels of creatine in the brain, leading to seizures, developmental delays, and intellectual disability.
- Autism Spectrum Disorder (ASD): Studies have found an association between certain variations in the SLC6A14 gene and an increased risk of ASD.
- Schizophrenia: Research suggests that genetic variations in SLC6A14 may contribute to the development of schizophrenia.
Did you Know ?
According to the National Institutes of Health, CTDS affects approximately 1 in 42,000 people worldwide.
