TRPML (transient receptor potential cation channel, mucolipin subfamily) comprises a group of three evolutionarily related proteins that belongs to the large family oftransient receptor potentialion channels. The three proteinsTRPML1,TRPML2 andTRPML3 are encoded by the mucolipin-1 (MCOLN1), mucolipin-2 (MCOLN2) and mucolipin-3 (MCOLN3) genes, respectively.
The three members of the TRPML ("ML" for mucolipin) sub-family are not extremely well characterized.[1]TRPML1 is known to be localized in lateendosomes.[2] This subunit also contains a lipase domain between its S1 and S2 segments. While the function of this domain is unknown it has been proposed that it is involved in channel regulation. Physiological studies have described TRPML1 channels asproton leak channels inlysosomes responsible for preventing these organelles from becoming too acidic.[2]TRPML2 andTRPML3 more poorly characterized thanTRPML1.[3][4]
Deficiencies can lead to enlarged vesicles.[5]