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.