Mucolipin-1(ML1)also known asTRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is aprotein that in humans is encoded by theMCOLN1gene.[5] It is a member of the small family of theTRPML channels, a subgroup of the large protein family ofTRP ion channels.
TRPML1 is a 65 kDa protein associated withmucolipidosis type IV. Its predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore.[6] TRPML1 is believed to channel iron ions across theendosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.[7] It is important in lysosome function and plays a part in processes such asvesicular trafficking,exocytosis andautophagy.[8][9]
