The mucolipin receptor family (TRPML) is a member of the transient receptor potential (TRP) superfamily of ion channels. It consists of three mammalian members (TRPML1-3). Acidic pH appears to regulate the ion current properties of all three TRPML channels.
TRPML1 is a cation-selective ion channel that is important for sorting/transport of endosomes in the late endocytotic pathway and specifically fusion between late endosome-lysosome hybrid vesicles. Therefore they are thought to control delivery of cellular material to lysosomes. TRPML1 has also been implicated in lysosomal dysfunction, which is associated with increased autophagy. Mutations in the gene encoding the TRPML1 channel (MCOLN1) are the cause of the neurodegenerative disorder mucolipidosis type IV (MLIV) in humans. TRPML2 channels are thought to be localized to the cell surface and recycling endosomes. TRPML3 channels appear to play a role in the regulation of endocytosis and autophagy. A gain-of-function mutation in the TRPML3 channel causes the varitint-waddler phenotype, whereas overexpression of TRPML3 leads to reduced endocytosis and increased autophagy with recruitment of TRPML3 into autophagosomes.
All three channels have been described to be capable of colocalizing with each other, in a subset of intracellular vesicles. Recombinant as well as native TRPML channels have been shown to physically interact with each other in homo- and heteromultimeric combinations.View all products for TRPML »
|Gene||Species||Gene Symbol||Gene Accession No.||Protein Accession No.|
|Rat||Mcoln2||NM_001039005||NP_001034094||View all TRPML Gene Data »|
Literature for TRPML
This review summarizes the molecular mechanisms, physiology and pathology of autophagy. The role of autophagy in cell death and its links to disease are also discussed. Compounds available from Tocris are listed.Request copy | Download PDF | View all reviews