| Full Name: | Transient receptor potential mucolipin-1 |
| Gene Name: | MCOLN1 |
| Background: | MCOLN1 encodes TRPML1, a member of the mucolipin subfamily of the transient receptor potential (TRP) ion channels. TRPML1 is predominantly localized to late endosomes and lysosomes, where it regulates calcium release, lysosomal trafficking, and autophagy. Mutations in MCOLN1 cause mucolipidosis type IV, a lysosomal storage disorder characterized by neurodegeneration and impaired endocytic trafficking. As a key modulator of lysosomal ion homeostasis, TRPML1 has emerged as a potential drug target in neurodegenerative diseases, cancer, and lysosome-related metabolic disorders. |
| Gene Aliases: | ML1; ML4; LECD; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1 |
| Gene ID: | 57192 |
| Organism: | Human |
| Class: | Lysosomal Ion Channel |
| Cell Line Info: | Full-length human TRPML1 transiently overexpressed in HEK293 cells with lysosomal targeting |
| Assay Type: | Cell Based |
| Assay Sub Type: | Electrophysiology |
| Detection Method: | Manual Patch Clamp |
| Features: | Unlike methods that rely on engineered TRPML1 mutants expressed on the plasma membrane (e.g., TRPML1-4A), our manual patch clamp assay captures the channel's behavior in its native lysosomal environment. This allows for more physiologically relevant evaluation of modulators under acidic pH and lipid compositions that closely mimic endogenous conditions. |
Figure: Manual patch clamp recording of human TRPML1 currents and dose-response data.
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2025-09-25
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