Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14.


Menkes disease is a lethal-X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / metabolism
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Southern
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cation Transport Proteins*
  • Cells, Cultured
  • Cloning, Molecular
  • Copper-Transporting ATPases
  • DNA
  • Female
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / genetics*
  • Metals / metabolism*
  • Molecular Sequence Data
  • Recombinant Fusion Proteins*
  • Sequence Homology, Amino Acid
  • X Chromosome


  • Carrier Proteins
  • Cation Transport Proteins
  • Metals
  • Recombinant Fusion Proteins
  • DNA
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases

Associated data

  • GENBANK/X69208