Aliases: ACY-1, ACY1D
Chromosome No: 3
Chromosome Band: 3p21.2
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Aminoacylase 1 deficiency
ASD Reports: 13
Recent Reports: 0
Annotated variants: 17
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
A homozyous missense variant in the ACY1 gene (c.1057C>T; p.Arg353Cys) was identified in a patient with ACY1 deficiency who was diagnosed with autistic syndrome (Tylki-Szymanska et al., 2010). Autistic features have also been reported in other individuals with ACY1 deficiency (Sommer et al., 2011; Alessandri et al., 2018).
Molecular Function
This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Mutations in this gene cause aminoacylase-1 deficiency (ACY1D) [MIM:609924], a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids.
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