{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC7A9 encodes the light‐chain subunit (b⁰,+AT) of a heterodimeric amino acid transporter that, together with its heavy‐chain partner encoded by SLC3A1 (rBAT), mediates the apical reabsorption of cystine and dibasic amino acids in renal proximal tubules. Through its critical role in solute transport, SLC7A9 is essential for maintaining amino acid homeostasis and is central to the pathogenesis of cystinuria—a genetic disorder characterized by impaired cystine reabsorption leading to recurrent kidney stones. In addition, genome‐wide association studies have implicated variants near SLC7A9 in altering renal function and increasing susceptibility to chronic kidney disease, highlighting its broader physiological relevance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, structural and mechanistic investigations have revealed that SLC7A9 adopts a LeuT‐like fold and forms a heterotetrameric complex with rBAT, where the light chain provides the transport function by creating a substrate‐binding pocket involving key transmembrane segments. Functional studies in renal cell models have further demonstrated that specific missense mutations (for example, substitutions such as P482L) can markedly decrease transport activity—even when membrane targeting remains intact—thereby compromising cystine uptake. Moreover, analysis of haplotypes and splice‐site variants has provided important insights into the regulation of SLC7A9 expression and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nExtensive genetic and clinical studies have documented a broad spectrum of SLC7A9 mutations and polymorphisms that underlie cystinuria across diverse populations. Screening efforts employing direct sequencing, multiplex ligation‐dependent probe amplification, and in silico predictive analyses have revealed that variants in SLC7A9 not only contribute to the classic non‐type I (or type B) forms of cystinuria but also display variable penetrance and genotype–phenotype correlations. 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