SLC25A40
SLC25A40: A Gene with Implications for Mitochondrial Function and Human Health
Description
The SLC25A40 gene encodes a protein known as the mitochondrial aspartate-glutamate carrier 1 (AGC1). This protein is located in the inner mitochondrial membrane and plays a crucial role in the transport of aspartate and glutamate across the membrane. Aspartate and glutamate are essential amino acids involved in various cellular processes, including energy production and neurotransmission.
Associated Diseases
Mutations in the SLC25A40 gene have been linked to several inherited disorders, including:
- Citrullinemia Type II: A rare genetic disorder characterized by a deficiency of the enzyme argininosuccinic acid synthase (ASS). ASS is involved in the urea cycle, which removes toxic ammonia from the body. Mutations in SLC25A40 lead to impaired transport of aspartate, disrupting the urea cycle and causing a buildup of ammonia.
- Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A severe neurological disorder caused by mitochondrial dysfunction. Mutations in SLC25A40 impair mitochondrial energy production, leading to a range of symptoms, including seizures, strokes, and muscle weakness.
- Leigh Syndrome: A severe neurodegenerative disorder that primarily affects infants. Mutations in SLC25A40 can disrupt mitochondrial function and cause progressive loss of neurological function and development.
Did you Know ?
According to the National Institute of Health‘s Genetic Testing Registry, mutations in the SLC25A40 gene are responsible for approximately 15-20% of cases of citrullinemia type II.
