Association between two polymorphisms of the ACE gene thought to regulate the level of enzyme activity (the insertion/deletion polymorphism and rs4343) and autism was observed in a case-control analysis of 120 Iranian ASD cases and 120 age and sex-matched controls of Caucasin origin (Firouzabadi et al., 2016). A de novo predicted damaging missense variant in the ACE gene (p.Tyr818Cys) was observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), however this variant was also reported in dbSNP. Functional analysis of the ASD-associated p.Tyr818Cys missense variant in Drosophila in Marcogliese et al., 2022 demonstrated a gain-of-function effect (increased lethality when overexpressed ubiquitously compared to reference protein).
Molecular Function
This gene encodes an enzyme that plays a key role in the renin-angiotensin system and is involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II, a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study
