An Ile/Val polymorphism at codon 1464 of the ATP7A gene.
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.
Ogawa
A
A
Department of Pediatrics, Chiba University School of Medicine, Japan. aogawa@pediat3.m.chiba-u.ac.jp
Yamamoto
S
S
Takayanagi
M
M
Kogo
T
T
Kanazawa
M
M
Kohno
Y
Y
D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D003062:Codon / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D006801:Humans; D007564:Japan; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011993:Recombinant Fusion Proteins
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D003062:Codon; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases