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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]
Gene Name: | mucolipin 2 |
Family/Subfamily: | Ion Channel , Calcium channel - TRP |
Synonyms: | MCOLN2, Mucolipin 2, TRP-ML2, TRPML2, Mucolipin-2 |
Target Sequences: | AY083533 AAM08926.1 Q8IZK6 |
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