A 2008 review by BrΓΆer connects newly cloned apical neutral amino acid transporters (SLC6 family, including Bβ°AT1) to classical epithelial physiology and inherited aminoacidurias such as Hartnup disorder, iminoglycinuria, cystinuria, and lysinuric protein intolerance β though many assignments rest on single-species vesicle and oocyte data rather than direct in vivo confirmation.
Human genetics outpaced biochemistry: mapping the Hartnup disease locus β not a physiological hypothesis β delivered the gene for system Bβ°, making rare aminoacidurias useful reverse-genetics entry points into epithelial physiology.
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