Description
Product Characteristics: Polycystin cation channel contains the cation channel region of PKD1 and PKD2 proteins, pfam08016 FUNCTION: Cationic channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. SUBUNIT: Forms multimeric complexes. SUBCELLULAR LOCATION: Cell membrane, Multi-pass membrane protein. Late endosome membrane, Multi-pass membrane protein. Lysosome membrane, Multi-pass membrane protein. TISSUE SPECIFICITY: Widely expressed, with the highest expression in brain, liver and kidney.,Mammalian Mucolipins,Mucolipin-1, Mucolipidin, Mcoln1, Mucolipin 1, MCLN1, TRPML1
Target Information: This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]