Synonyms:ENTREZ:255231, HGNC:13357, MCOLN2, MIM:607399, NM_001330647, NM_153259, NP_001317576, NP_694991, TRP-ML2, TRPML2, XM_005270719, XM_011541187, XM_011541188, XM_017000923, XP_005270776, XP_011539489, XP_011539490, XP_016856412, XR_001737090, XR_001737091, mucolipin TRP cation channel 2
Omim:OMIM:607399
Id:6bd1493f-ebe2-55c7-8d9c-ab9be66375a5
Hgnc:HGNC:13357
Description:mucolipin TRP cation channel 2
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]