Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

Abstract excerpt

BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter. These mutations disrupt cystine efflux, leading to its accumulation in lysosomes and subsequent cellular damage. While more than 140 mutations have been identified, the functional and structural impacts of many nonsynonymous single...

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