No convincing evidence for a causal role for ACAT2 in acetyl-CoA acetyltransferase-2 deficiency has been reported. Two patients proposed to be affected with this disease have been reported (PMID: 6150136 and PMID: 20597). However, they were never investigated genetically, and later reviews highlight the incomplete and unproven nature of this diagnosis due to the evaluation of the enzyme only (PMID: 9607396). Although this gene-disease association is supported by its biochemical function and an animal model with preweaning lethality (PMID: 27626380), no reports have directly implicated the gene in humans.
This gene-disease pair was originally evaluated by the FAO GCEP on 08/14/2018. It was reevaluated on 01/15/2021. As a result of this reevaluation, the classification did not change as no new information is contributing to the classification.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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