A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)

Gene ID: 53947, updated on 10-Oct-2024
Gene type: protein coding
Also known as: P1; PK; Gb3S; P(k); P1PK; A14GALT; A4GALT1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Blood group, P1PK system MedGen: C3549485OMIM: 111400GeneReviews: Not available	not available

Genomic context

Location:: 22q13.2

Sequence:: Chromosome: 22; NC_000022.11 (42692121..42721301, complement)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for A4GALT variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

A4GALT database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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