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Gene : ABO Homo sapiens

Name  ? ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Cytological Location  9q34.2
Brief Description  ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
description  This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • A3GALT1,
  • NM_020469,
  • ABO,
  • A3GALT1,
  • uc064wua.1,
  • AF134415,
  • A3GALNT,
  • GTB,
  • NAGAT,
  • ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase),
  • HGNC:79,
  • OTTHUMG00000020872,
  • A3GALNT
  • identifiers:
  • 28,
  • ENSG00000175164,
  • ABO

Genome feature

Region: gene ? Length: 20039  
Location: 9:133255176-133275214 reverse strand Cyto location: 9q34.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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2011 SN Ps

5 Cross References

16 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results