A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P(2) and causes lysosome acidification and hypopigmentation

Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify a de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore Channel 2 (TPC2) from a patient with albinism. TPC2 is an endolysosome and melanosome localized non-selective cation channel i...

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Detalles Bibliográficos
Autores principales: Wang, Qiaochu, Wang, Zengge, Wang, Yizhen, Qi, Zhan, Bai, Dayong, Wang, Chentong, Chen, Yuanying, Xu, Wenjian, Zhu, Xili, Jeon, Jaepyo, Xiong, Jian, Hao, Chanjuan, Zhu, Michael Xi, Wei, Aihua, Li, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840614/
https://www.ncbi.nlm.nih.gov/pubmed/36641477
http://dx.doi.org/10.1038/s41467-023-35786-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840614/
https://www.ncbi.nlm.nih.gov/pubmed/36641477
http://dx.doi.org/10.1038/s41467-023-35786-9

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