A novel gene involved in zinc transport is deficient in the lethal milk mouse

Nat Genet. 1997 Nov;17(3):292-7. doi: 10.1038/ng1197-292.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blood Proteins / genetics
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism*
  • Cation Transport Proteins*
  • Chromosome Mapping
  • Cloning, Molecular
  • Cytoskeletal Proteins
  • Female
  • Humans
  • Mammary Glands, Animal / metabolism
  • Membrane Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • Mutation
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Tissue Distribution
  • Yeasts / genetics
  • Zinc / deficiency*
  • Zinc / metabolism

Substances

  • Blood Proteins
  • Carrier Proteins
  • Cation Transport Proteins
  • Cytoskeletal Proteins
  • Membrane Proteins
  • Recombinant Proteins
  • SLC30A4 protein, human
  • Slc30a4 protein, mouse
  • erythrocyte membrane band 4.2 protein
  • Zinc

Associated data

  • GENBANK/AF003747
  • GENBANK/AF004097
  • GENBANK/AF004098
  • GENBANK/AF004099
  • GENBANK/AF004100
  • GENBANK/AF025409