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Literature summary for 1.4.3.22 extracted from

  • Ayuso, P.; Garcia-Martin, E.; Martinez, C.; Agundez, J.A.
    Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity (2007), Pharmacogenet. Genomics, 17, 687-693.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining
blood serum variant ABP1 alleles leading to the amino-acid substitutions Thr16Met, Ser332Phe and His645Asp are identified with frequencies of 25.4, 6.3 and 30.6%, respectively. Over 70% of the population carry at least one amino-acid substitution. Individuals carrying the 645Asp amino acid display lower serum diamine oxidase activity as compared with noncarriers with a significant gene-dose effect. This is due to an increase in the Michaelis-Menten constant. Individuals heterozygous for 645Asp show Vmax/Km values of 66% and homozygous 51% as compared with noncarriers. The effect of the 16Met variant allele is lower and that of the rarest allele 332Phe is negligible Homo sapiens
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