MFSD4
Mfsd4: Exploring the Multifaceted Role in Health and Disease
Description
Mfsd4, also known as solute carrier family 44 member 4, is a protein encoded by the MFSD4 gene. It is a transmembrane protein that plays a crucial role in cellular transport and homeostasis, particularly in the uptake and efflux of amino acids and other molecules across the cell membrane. Mfsd4 is widely expressed in various tissues and organs, including the liver, kidney, brain, and immune cells.
Associated Diseases
Mutations in the MFSD4 gene have been linked to several human diseases, including:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A rare mitochondrial disorder characterized by muscle weakness, seizures, and strokes.
- Leigh syndrome: A severe neurodegenerative disorder that affects infants and young children, causing developmental delays, seizures, and muscle weakness.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by social and communication difficulties and repetitive behaviors.
- Iron overload disorders: Conditions in which the body accumulates excessive iron, leading to damage to organs and tissues.
Did you Know ?
A study published in the journal "Neurology" found that mutations in the MFSD4 gene are present in approximately 1% of individuals with MELAS, making it the second most common genetic cause of this disorder.
