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Literature summary for 2.3.1.5 extracted from

  • Yuliwulandari, R.; Sachrowardi, Q.; Nishida, N.; Takasu, M.; Batubara, L.; Susmiarsih, T.P.; Rochani, J.T.; Wikaningrum, R.; Miyashita, R.; Miyagawa, T.; Sofro, A.S.; Tokunaga, K.
    Polymorphisms of promoter and coding regions of the arylamine N-acetyltransferase 2 (NAT2) gene in the Indonesian population: proposal for a new nomenclature (2008), J. Hum. Genet., 53, 201-209.
    View publication on PubMed

Application

Application Comment Organism
medicine NAT2 polymorphisms in both promoter and coding regions in the Indonesian population are examined: Promoter and coding regions of NAT2 displays 23 polymorphisms/variations. Seven haplotypes in the promoter region and six haplotypes in the coding region are inferred. Haplotypes in promoter and coding regions show limited combinations, and 13 combined haplotypes are inferred. The most frequent haplotypes are U1 (38.9%), U2 (33.5%) in the promoter region and NAT2*4 (37.3%), NAT2*6A (36.8%) in the coding region. When converted to predicted phenotypes, the studied population comprise 65.4% rapid acetylators and 35.6% slow acetylators according to bimodal distribution. Frequencies of NAT2 alleles for the Indonesian population resemble those of other Southeast Asian populations Homo sapiens
medicine polymorphisms of arylamine N-acetyltransferase 2 are reportedly associated with the risk of drug toxicities and development of various diseases such as cancer and neurodegenerative diseases Homo sapiens

Protein Variants

Protein Variants Comment Organism
NAT2*12A.U4 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*13.U1 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U1 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U2 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U3 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U5 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U6 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*4.U7 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*5B.U1 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*5B.U4 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*6A.U1 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*7B.U2 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens
NAT2*7B.U3 polymorphism, proposed new nomenclature composed of haplotype in the promoter region and conventional NAT2 haplotype in the coding region Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
arylamine N-acetyltransferase 2
-
Homo sapiens
NAT2
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Homo sapiens