Associated Papers
OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.
Wang Y et al.
The Journal of Investigative Dermatology, 2025
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
Manga P et al.
Annals of Human Genetics, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Courdier C et al.
European Journal of Human Genetics : Ejhg, 2025
Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.
Kondratskyi A et al.
Bioelectricity, 2025
Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.
Abrahamian C et al.
Nature Communications, 2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
Lysosome pH-regulated H+ /K+ switching channel involved in maintaining lysosomal homeostasis.
Wang Y et al.
The Febs Journal, 2023
A novel gain of function mutation in TPC2 reiterates pH-pigmentation interplay: Emerging role of ionic homeostasis as a master pigmentation regulator.
Sharma N et al.
Cell Calcium, 2023
A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.
Wang Q et al.
Nature Communications, 2023
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