This gene encodes a memberof the transient receptornpotential (TRP) cation channel gene family. The transmembranenprotein localizes to intracellular vesicular membranes includingnlysosomes, and functions in the late endocytic pathway and in thenregulation of lysosomal exocytosis. The channel is permeable tonCa(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changesnin Ca(2+) concentration. Mutations in this gene result innmucolipidosis type IV.
应用类型
WB
免疫原
This MCOLN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 531-560 amino acids from the C-terminal region of human MCOLN1.