ACSM4

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Description

The ACSM4 gene encodes a protein involved in mitochondrial fatty acid metabolism. It plays a vital role in the breakdown of long-chain fatty acids, providing energy for cellular processes. Mutations in ACSM4 can disrupt this critical function, leading to a range of health issues. The ACSM4 protein is found in various tissues, including the brain, heart, and skeletal muscle, highlighting its importance in maintaining overall health.

Associated Diseases

• Mitochondrial Long-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
• Leigh Syndrome
• Global Developmental Delay
• Cerebral Palsy

Did you know?

ACSM4 mutations are known to be more prevalent in certain populations, leading to a higher risk of developing associated diseases.