title: A novel gene involved in zinc transport is deficient in the lethal milk mouse.
abstract: We have identified the gene responsible for the inherited zinc deficiency in the lethal milk (lm) mouse. The gene, here designated Znt4, encodes a 430-amino-acid protein that is homologous to two proteins, ZnT2 and ZnT3, responsible for sequestration of zinc into endosomal/lysosomal compartments and synaptic vesicles, respectively. We show that the Znt4 gene confers zinc resistance to a zinc-sensitive yeast strain and that it is abundantly expressed in the mammary epithelia and brain. The lethal milk mutant has a nonsense mutation at arginine codon 297 in the Znt4 gene.
authors.affiliation: Howard Hughes Medical Institute, University of California, San Francisco 94143, USA.
authors.forename: L
authors.initials: L
authors.lastname: Huang
authors.forename: J
authors.initials: J
authors.lastname: Gitschier
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001798:Blood Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D027682:Cation Transport Proteins; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins; D005260:Female; D006801:Humans; D008321:Mammary Glands, Animal / Q000378:metabolism; D008565:Membrane Proteins; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011994:Recombinant Proteins / Q000235:genetics / Q000378:metabolism; D014018:Tissue Distribution; D015003:Yeasts / Q000235:genetics; D015032:Zinc / Q000172:deficiency* / Q000378:metabolism
chemical_list: D001798:Blood Proteins; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D011994:Recombinant Proteins; C491597:SLC30A4 protein, human; C109053:Slc30a4 protein, mouse; C044791:erythrocyte membrane band 4.2 protein; D015032:Zinc