KEGG   VARIANT: 53947v1
Entry
53947v1                      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
PMID:10747952
  Authors
Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson Sojka B, Bennett EP, Jersild C, Clausen H.
  Title
Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype.
  Journal
J Biol Chem 275:16723-9 (2000)
DOI:10.1074/jbc.M000728200
LinkDB

KEGG   VARIANT: 53947v2
Entry
53947v2                      Variant                               
Name
A4GALT P1+, Pk+, NOR+ 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
PMID:22965229
  Authors
Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M.
  Title
A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
  Journal
J Biol Chem 287:38220-30 (2012)
DOI:10.1074/jbc.M112.408286
LinkDB

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