SLC16A1
SLC16A1: The Transporter at the Heart of Human Health and Disease
Description
SLC16A1 is a gene that encodes a protein called the monocarboxylate transporter 1 (MCT1). MCT1 is a membrane protein that transports lactate, pyruvate, and other monocarboxylic acids across the cell membrane. This transport process is crucial for cellular metabolism, as it facilitates the exchange of energy-producing substrates and waste products between cells.
MCT1 is widely expressed throughout the body, particularly in tissues with high metabolic activity, such as skeletal muscle, heart, and brain. In these tissues, MCT1 plays a vital role in:
- Energy production: MCT1 transports lactate, a key energy substrate, into cells for utilization as fuel.
- Waste removal: MCT1 transports pyruvate, a metabolic byproduct, out of cells for further metabolism or excretion.
- pH regulation: MCT1 participates in proton transport, helping to regulate the acid-base balance within cells.
Associated Diseases
Mutations in the SLC16A1 gene have been linked to a variety of diseases, including:
- Lactate acidosis: A condition caused by excessive accumulation of lactate in the blood, typically resulting from impaired MCT1 function.
- Mitochondrial disorders: MCT1 plays a role in mitochondrial metabolism, and mutations in the SLC16A1 gene can contribute to mitochondrial dysfunctions.
- Cancer: MCT1 has been implicated in the growth and progression of certain cancers, as it is involved in the uptake of lactate by tumor cells.
- Neurological disorders: MCT1 dysfunction has been linked to neurodegenerative diseases such as Alzheimer‘s and Parkinson‘s disease.
Did you Know ?
Approximately 1 in 50,000 people worldwide have a mutation in the SLC16A1 gene that leads to lactate acidosis.
