Deficiency of AMP deaminase in erythrocytes.
Six individuals with complete deficiency of erythrocyte AMP deaminase have been discovered. They are all healthy and have no hematological disorders. The deficiency is only in isozyme E, which is the erythrocyte type isozyme, and is inherited as an autosomal recessive trait. The frequency of the mutant gene is surprisingly high, one heterozygote in about 30 of the population in Japan, Seoul, and Taipei. The ATP level is approximately 50% higher in AMP-deficient erythrocytes compared to that of control cells. Degradation of adenine nucleotide is slower in the deficient erythrocytes than in the control erythrocytes.
D000659:AMP Deaminase / Q000172:deficiency* / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics; D008297:Male; D009709:Nucleotide Deaminases / Q000172:deficiency*; D010375:Pedigree
D007527:Isoenzymes; D009709:Nucleotide Deaminases; D000659:AMP Deaminase