基因名:
Mcoln2
产品别名:
3300002C04Rik; AI549968; C86638; TRPML2; Mcoln2; mucolipin 2; mucolipin 2; mucolipin-2; mucolipidin 2; transient receptor potential channel mucolipin 2; 粘脂蛋白2;
背景信息:
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]