Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009],
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Function:
sequence Caution:Translated as Trp.,similarity:Belongs to the transient receptor family. Polycystin subfamily.,
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Cellular Localization:
Cell membrane ; Multi-pass membrane protein . Late endosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein . Recycling endosome membrane ; Multi-pass membrane protein . Localizes to recycling endosomes in activated macrophages and microglia. .