A4GALT |
- 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)