Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

Biochem Biophys Res Commun. 1993 Nov 30;197(1):271-7. doi: 10.1006/bbrc.1993.2471.


The putative copper and ATP-binding domains of the human Menkes disease gene were used as probes to screen a human liver cDNA library at reduced stringency. Sixty-five clones which remained positive after tertiary screening were subcloned and sequenced. One of these cDNA clones contains an open reading frame with 65% amino acid homology to the Menkes protein. Southern blot analysis localizes this cDNA to the region of the Wilson disease locus on chromosome 13. This cDNA detects a 7.5 kB transcript which is present in human liver and cell lines devoid of the Menkes transcript and which is absent in liver from a patient with Wilson disease. These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 13*
  • Copper / metabolism*
  • DNA Probes
  • DNA, Complementary / genetics
  • Gene Library
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Liver / metabolism
  • Menkes Kinky Hair Syndrome / genetics
  • Molecular Sequence Data
  • RNA, Messenger / analysis
  • Sequence Homology, Amino Acid


  • Carrier Proteins
  • DNA Probes
  • DNA, Complementary
  • RNA, Messenger
  • Copper
  • Adenosine Triphosphatases

Associated data

  • GENBANK/D17642
  • GENBANK/D17795
  • GENBANK/D17796
  • GENBANK/D17797
  • GENBANK/D17798
  • GENBANK/D17799
  • GENBANK/D17800
  • GENBANK/D17801
  • GENBANK/D17802
  • GENBANK/L25442