AUTS2

AUTS2 (Autism Susceptibility Candidate 2) is a gene that encodes a protein which plays a crucial role in neurodevelopment. It is associated with a variety of neurodevelopmental disorders, including autism, intellectual disability, and developmental delay.

Function

The AUTS2 protein is involved in the regulation of gene expression during neural development. It is particularly important in the formation and function of the central nervous system. The exact mechanisms by which AUTS2 influences neurodevelopment are still under investigation, but it is thought to interact with other proteins and DNA to regulate the activity of certain genes.

Clinical significance

Mutations in the AUTS2 gene have been linked to a range of neurodevelopmental disorders. These include:

• Autism: Some individuals with autism have been found to have mutations in the AUTS2 gene. However, the relationship between AUTS2 and autism is complex and not fully understood.
• Intellectual disability: Mutations in AUTS2 can cause intellectual disability, often in combination with other symptoms such as growth retardation and facial dysmorphism.
• Developmental delay: Changes in the AUTS2 gene can lead to delays in reaching developmental milestones.

Genetic location

The AUTS2 gene is located on the long (q) arm of chromosome 7 at position 11.22.

See also

• Autism
• Intellectual disability
• Developmental delay
• Gene expression
• Neural development