Gene ASPA

Also known as

ACY2, ASP

Overview

ASPA (Aspartoacylase) encodes aspartoacylase, an enzyme that breaks down N-acetylaspartic acid (NAA) in the brain. NAA is one of the most abundant amino acid derivatives in the brain and is essential for maintaining the myelin sheath that insulates nerve fibers. Proper NAA metabolism is crucial for brain development and function.

Mutations in ASPA cause Canavan disease, a rare autosomal recessive leukodystrophy characterized by progressive neurodegeneration. The disease typically presents in infancy with developmental delay, hypotonia, macrocephaly, and eventually leads to severe disability. The condition is more common in individuals of Ashkenazi Jewish descent, where carrier frequency is approximately 1 in 40.

Understanding your ASPA genetic status is important for carrier screening, particularly in populations with elevated carrier frequencies. Early identification of carriers allows for informed family planning decisions and genetic counseling.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report

Upload raw DNA data to get your very own analysis of gene ASPA through your personalized DNA reports.