ACOT1
Acot1: A Gene Linked to Intellectual Disability and Neurodevelopmental Disorders
Description
ACOT1 (acyl-CoA thioesterase 1) is a gene that provides instructions for producing an enzyme called acyl-CoA thioesterase. This enzyme plays a crucial role in the breakdown of fatty acids, which are essential for energy production and numerous cellular processes.
Mutations in the ACOT1 gene disrupt the production or function of this enzyme, leading to a range of neurodevelopmental disorders characterized by intellectual disability, developmental delays, and behavioral problems.
Associated Diseases
ACOT1 mutations have been associated with the following conditions:
- Congenital Microcephaly: Infantile microcephaly is a condition characterized by an unusually small head size at birth and developmental delays. - Joubert Syndrome: A rare genetic disorder characterized by the presence of an abnormally developed brain structure called the vermis, along with other neurological and developmental abnormalities. - Cerebellar Ataxia: Ataxia is a movement disorder that affects coordination, balance, and fine motor skills. - Intellectual Disability: A general term used to describe a range of cognitive impairments that affect intellectual function.
Did you Know ?
It is estimated that ACOT1 mutations affect approximately 1 in 100,000 individuals worldwide. This makes it a relatively rare condition, but it is the most common genetic cause of Leber congenital microcephaly, a specific type of microcephaly.
