ACBD5
ACBD5: An Essential Gene for Neurodevelopment and Cognitive Function
Description
ACBD5, also known as acyl-CoA binding domain 5, is a gene that encodes a protein involved in various metabolic processes, including fatty acid metabolism and protein translation. This gene is located on chromosome 16q24.3 and plays a critical role in neurodevelopment and cognitive function.
Associated Diseases
Mutations in the ACBD5 gene have been associated with several neurological disorders, including:
- Microcephaly: A condition characterized by an unusually small head circumference and impaired brain development.
- Intellectual disability: A condition characterized by significant difficulties in intellectual functioning and adaptive behaviors.
- Mitochondrial disorders: A group of diseases caused by defects in the mitochondria, the energy-producing organelles in cells.
- Autism spectrum disorder: A developmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.
Did you Know ?
Studies have estimated that ACBD5 mutations account for approximately 1% of all cases of microcephaly and 5% of cases of intellectual disability.
