GeneID: 325



Names

Common Name: ABO Type: Gene
Chromosome: 9 (NC_000009.12) Locus: NG_006669.2 (ABO)
HUGO Symbol: ABO Full Name: ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Exons: 8 Introns: 7

Description:
The encoded protein is the basis of the ABO blood group system. ABO antigens (A, B and H) are characterized structurally by carbohydrate chains, which are synthesized in the Golgi by sequential action of glycosyltransferases. The ABO gene encodes such a glycosyltransferase, which catalyzes the transfer of carbohydrates to the H antigen, which is the precursor of the ABO blood group antigens. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity, resulting in the H antigen left as it is. Genetic variance in ABO gene associated with haematological parameters (e.g., red blood cell count).

Synonyms: GTB , NAGAT , A3GALNT , A3GALT1

Comments:
N/A

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Publications / Origin

  1. Suzuki K, ABO blood group alleles and genetic recombination., Leg Med (Tokyo), 7(4), 205-12, 2005 PubMed
  2. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
Created on 2019-12-05 15:22:04, Last reviewed on (Show full history)


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