An Ile/Val polymorphism at codon 1464 of the ATP7A gene

J Hum Genet. 1999;44(6):423-4. doi: 10.1007/s100380050194.

Abstract

An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Codon / genetics*
  • Copper-Transporting ATPases
  • Humans
  • Japan
  • Menkes Kinky Hair Syndrome / genetics*
  • Polymorphism, Single Nucleotide*
  • Recombinant Fusion Proteins*

Substances

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