Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3.

ABSTRACT: The modulation of ion channel activity by lipids is increasingly recognized as a fundamental component of cellular signalling. The transient receptor potential mucolipin (TRPML) channel family belongs to the TRP superfamily and is composed of three members: TRPML1-TRPML3. TRPMLs are the major Ca²⁺-permeable channels on late endosomes and lysosomes (LEL). They regulate the release of Ca²⁺ from organelles, which is important for various physiological processes, including organelle trafficking and fusion. Loss-of-function mutations in the MCOLN1 gene, which encodes TRPML1, cause the neurodegenerative lysosomal storage disorder mucolipidosis type IV, and a gain-of-function mutation (Ala419Pro) in TRPML3 gives rise to the varitint-waddler (Va) mouse phenotype. Notably, TRP

SUBMITTER: Hirschi M 

PROVIDER: S-EPMC5762132 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature