Description
Product Characteristics: Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV. SUBCELLULAR LOCATION: Membrane, Multi-pass membrane protein,Mammalian Mucolipins,MCLN2, Mucolipin-2, MCOLN2, mucolipin 2, TRPML2, TRP-ML2, FLJ36691
Target Information: 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]