ArticleCell calcium2023
A novel gain of function mutation in TPC2 reiterates pH-pigmentation interplay: Emerging role of ionic homeostasis as a master pigmentation regulator.
Article in Cell calcium, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 9 citations in OpenAlex.
- TPC1-dependent control of endosomal pH and transferrin uptake determines cellular iron status.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- IP3R2-mediated inter-organelle calcium signaling suppresses melanosome degradation.PLoS biology · 2026Article
- Review
- ROS and calcium signaling are critical determinant of skin pigmentation.Cell calcium · 2025Review
- Mitochondrial calcium uptake orchestrates vertebrate pigmentation via transcriptional regulation of keratin filaments.PLoS biology · 2024Article
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3 authors at 1 institution in 1 country.
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Abstract
Pigmentation is a complex physiological phenomenon that protects from UV induced damage. Perturbations in pigmentation pathways lead to pigmentary disorders such as vitiligo, albinism and Darier...s disease. Emerging literature implicates a critical role of ionic homeostasis and pH in regulating pigmentation. In a recent study, Wang et al. identified a novel gain of function mutation in a non-selective cation channel "Two Pore Channel 2" (TPC2) that is responsible for albinism in a human patient. The authors demonstrate that this mutation leads to constitutive activation of TPC2 thereby modulating cellular calcium dynamics and inducing changes in the lysosomal pH. Further, authors generated a knock in mice with homologous TPC2 mutation and corroborated a causative role for this mutation in albinism. It is an exciting study that reports a novel TPC2 mutation, which is responsible for albinism in an autosomal dominant inheritance fashion. Since TPC2 is localized on melanosomes as well, going forward it would be interesting to investigate the role of this mutation on melanosomal calcium dynamics and alterations in melanosomal pH.
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Registered trials
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