Rare inherited loss-of-function and damaging missense variants in the ATP6V0A2 gene were identified in ASD probands from the Simons Simplex Collection in Krumm et al., 2015; targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified additional rare inherited variants in this gene in ASD probands. Subsequent Transmission and De Novo Association (TADA) analysis In Guo et al., 2017 identified ATP6V0A2 as an ASD candidate gene with a PTADA of 0.007146 in the Chinese ASD case-control cohort and a PTADA of 0.007251 in a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Molecular Function
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Biallelic mutations in the ATP6V0A2 gene are associated with autosomal recessive cutis laxa type IIA (ARCL2A; OMIM 219200) and wrinkly skin syndrome (OMIM 278250).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
