SLC17A9 – Porokeratosis

Current evidence examining the role of SLC17A9 in porokeratosis is limited. Although SLC17A9 was included in multi‐gene panel studies of Chinese patients with porokeratosis (PMID:27422687) and in a separate familial and sporadic cohort (PMID:29722423), no pathogenic variants in SLC17A9 were identified, and no segregation data specific to this gene was provided. The studies primarily reported mutations in other mevalonate pathway genes, such as MVD and MVK, suggesting that the contribution of SLC17A9 to disease etiology remains unsubstantiated. Inheritance for porokeratosis is typically autosomal dominant, but no direct evidence supports that SLC17A9 variants segregate in affected families. The absence of variant-level data limits the overall clinical validity of the SLC17A9-porokeratosis association.

Furthermore, while functional studies in a distinct context have demonstrated that SLC17A9 plays a critical role in lysosomal ATP transport and cell viability (PMID:35269509), these results do not establish a mechanistic link to porokeratosis pathogenesis. The current body of evidence, therefore, does not meet the criteria for strong genetic or experimental validation in porokeratosis. In summary, the association of SLC17A9 with porokeratosis remains limited, and additional targeted genetic and functional studies are warranted to establish its clinical utility for diagnostic decision‑making.

References

• Journal of the European Academy of Dermatology and Venereology • 2016 • Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis PMID:27422687
• The Journal of Dermatology • 2018 • Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis PMID:29722423
• Cells • 2022 • Lysosomal ATP Transporter SLC17A9 Controls Cell Viability via Regulating Cathepsin D PMID:35269509

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