Where’s the actual brain expression data? Can you point to a single peer-reviewed study showing ABCA12 protein or RNA in human prefrontal cortex or hippocampus using validated antibodies or RNAscope? Because Table 1 looks like it was copied from a generic neuroanatomy textbook and pasted onto ABCA12.
If ABCA12 is truly expressed in the brain, why don’t harlequin ichthyosis patients consistently show ASD? You’d expect near-universal neurodevelopmental issues if loss of this gene disrupts cortical lipid transport. That’s not the literature. So are you claiming a brain-specific isoform or a different mechanism?
Your in vivo models (mouse, zebrafish)….. did you actually check ABCA12 expression in their brains, or are you assuming from skin phenotypes? Most ABCA12 knockout mice die perinatally from skin barrier failure, not from behavioral phenotypes. How did you separate primary brain effects from systemic metabolic collapse?
