KEGG   VARIANT: 53947v3
Entry
53947v3                      Variant                               
Name
A4GALT P1-, Pk+ allele
Gene
A4GALT  lactosylceramide 4-alpha-galactosyltransferase [KO:K01988]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
polymorphism
OmimVar: 607922
Network
nt06035  Blood group carbohydrate antigen biosynthesis
Reference
  Authors
Thuresson B, Westman JS, Olsson ML
  Title
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.
  Journal
Blood 117:678-87 (2011)
DOI:10.1182/blood-2010-08-301333
Reference
  Authors
Westman JS, Stenfelt L, Vidovic K, Moller M, Hellberg A, Kjellstrom S, Olsson ML
  Title
Allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT.
  Journal
Blood 131:1611-1616 (2018)
DOI:10.1182/blood-2017-08-803080
LinkDB

KEGG   VARIANT: 53947v4
Entry
53947v4                      Variant                               
Name
A4GALT p allele
Gene
A4GALT  lactosylceramide 4-alpha-galactosyltransferase [KO:K01988]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
polymorphism
OmimVar: 607922
Network
nt06035  Blood group carbohydrate antigen biosynthesis
Reference
  Authors
Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T, Furukawa K
  Title
Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese  individuals.
  Journal
J Biol Chem 275:37752-6 (2000)
DOI:10.1074/jbc.C000625200
LinkDB

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