title: TRPML and lysosomal function.
abstract: Mucolipin 1 (MLN1), also known as TRPML1, is a member of the mucolipin family. The mucolipins are the only lysosomal proteins within the TRP superfamily. Mutations in the gene coding for TRPML1 result in a lysosomal storage disorder (LSD). This review summarizes the current knowledge related to this protein and the rest of the mucolipin family.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel.
authors.forename: David A
authors.initials: DA
authors.lastname: Zeevi
authors.forename: Ayala
authors.initials: A
authors.lastname: Frumkin
authors.forename: Gideon
authors.initials: G
authors.lastname: Bach
mesh_terms: D000818:Animals; D006801:Humans; D008247:Lysosomes / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D008954:Models, Biological; D011485:Protein Binding; D021381:Protein Transport; D050053:TRPM Cation Channels / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D050051:Transient Receptor Potential Channels / Q000235:genetics / Q000378:metabolism / Q000502:physiology*
chemical_list: C416674:MCOLN1 protein, human; C510642:MCOLN3 protein, human; C510641:Mcoln2 protein, human; D050053:TRPM Cation Channels; D050051:Transient Receptor Potential Channels