MFSD2A

Description

The MFSD2A gene, located on chromosome 11, encodes a protein involved in the transport of lipids, particularly long-chain fatty acids and sphingolipids. This protein plays a crucial role in various cellular processes, including membrane formation, cell signaling, and energy production. Its function is vital for normal brain development, immune function, and overall metabolic health. Mutations in MFSD2A can disrupt these processes, leading to a range of disorders.

Associated Diseases

• Neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy
• Metabolic disorders, such as obesity, diabetes, and fatty liver disease
• Immune disorders, including inflammatory bowel disease and autoimmune disorders
• Neurodegenerative disorders, such as Alzheimer‘s disease and Parkinson‘s disease

Did you know?

The MFSD2A protein is known as a ‘lipid flippase‘, meaning it moves lipids from one side of the cell membrane to the other.