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Trpml - Transient receptor potential cation channel, mucolipin

Enables intracellularly ligand-gated monoatomic ion channel activity; monoatomic cation channel activity; and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including autophagosome maturation; positive regulation of TOR signaling; and positive regulation of synaptic assembly at neuromuscular junction. Located in endolysosome membrane; late endosome membrane; and plasma membrane. Is expressed in adult head. Used to study glycoproteinosis. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1); MCOLN2 (mucolipin TRP cation channel 2); and MCOLN3 (mucolipin TRP cation channel 3). [provided by Alliance of Genome Resources, Dec 2024]

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Species Gene Architecture aa