A4GALT Chromosome 22

Alpha 1,4-galactosyltransferase (P1PK blood group)

6 variants 1 Health Risk 5 Trait

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What This Gene Does

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Gene Info

Gene Group

"Alpha 1,4-glycosyltransferases|Blood group antigens"

Locus Type

gene with protein product

Location

22q13.2

Ensembl

ENSG00000128274

Associated Conditions (2)

NOR polyagglutination syndrome

p phenotype

Key Variants

RS397514502

Pathogenic

NOR polyagglutination syndrome, NOR polyagglutination syndrome

Health Risk

All Variants (6)

RSID	Category	Clinical Significance	Conditions
RS397514502	Health Risk	Pathogenic	NOR polyagglutination syndrome, NOR polyagglutination syndrome
RS28940572	Trait	Affects	p phenotype, p phenotype
RS387906279	Trait	Affects	p phenotype, p phenotype
RS387906280	Trait	Affects	p phenotype, p phenotype
RS74315453	Trait	Affects	p phenotype, p phenotype
RS74315454	Trait	Affects	p phenotype, p phenotype