• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
A4GALT (HGNC:18149) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
alpha 1,4-galactosyltransferase (P blood group)
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
P1
Alias symbols
A14GALT, Gb3S, P(k)
%HI
73.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.65(Read more about gnomAD LOEUF score)
Cytoband
22q13.2
Genomic Coordinates
GRCh37/hg19: chr22:43088127-43117307 NCBI Ensembl UCSC
GRCh38/hg38: chr22:42692121-42721301 NCBI Ensembl UCSC
MANE Select Transcript
NM_017436.7 ENST00000642412.2 (Read more about MANE Select)
Function
Catalyzes the transfer of galactose from UDP-alpha-D- galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant porti... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36705
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
12/11/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Evidence Comments:
Homozygous or compound heterozygous null mutations in A4GALT result in the rare p phenotype of the P1PK histo-blood group system, which is associated with severe transfusion reactions and increased risk for miscarriage. Furukawa et al., 2002 (PMID: 10993874) reported a Japanese patient with a homozygous nonsense mutation and 4-alpha-galactosyltransferase activity of 0.08% of wild type. Westman et al. 2014 (PMID: 24417201) report three patients with different ethnic backgrounds with homozygous deletions (20.8-32.8 kb) including the proposed promoter, non-coding exons 1 and 2a, and potential binding sites for erythroid transcription factors that resulted in loss of transcription. See Westman et al, 2014 (PMID: 23927681) for a description of 20 null mutations resulting in the p-phenotype. See also additional case reports, PMIDs 23744321, 23225054, 24327159, 21092013, 20053607, 18067504.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)