Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.Q211E
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A4GALT

NM_017436.7:p.Q211E

Associated Papers

Expression of a human Gb3/CD77 synthase in insect and human cells: comparison of activity and glycosylation.

Mikolajczyk K et al.

Protein Expression and Purification, 2025

B4GALT5-deficient CHO-Lec2 cells expressing human α1,4-galactosyltransferase: A glycoengineered cell model for studying Shiga toxin receptors.

Mikołajczyk K

Biochemical and Biophysical Research Communications, 2025

Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research.

Szymczak-Kulus K et al.

Cellular & Molecular Biology Letters, 2024

Glycosphingolipids in congenital disorders of glycosylation (CDG).

Jáñez Pedrayes A et al.

Molecular Genetics and Metabolism, 2024

ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.

Jajosky RP et al.

Iscience, 2023

One of the two N-glycans on the human Gb3/CD77 synthase is essential for its activity and allosterically regulates its function.

Mikolajczyk K et al.

Biochemical and Biophysical Research Communications, 2022

Mixed-Up Sugars: Glycosyltransferase Cross-Reactivity in Cancerous Tissues and Their Therapeutic Targeting.

Cid E et al.

Chembiochem : a European Journal of Chemical Biology, 2022

Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.

Mikolajczyk K et al.

Glycobiology, 2021

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.

Kok K et al.

Biomolecules, 2021

The P1PK blood group system: revisited and resolved.

Stenfelt L et al.

Immunohematology, 2020

Deletion in the A4GALT Gene Associated with Rare "P null" Phenotype: The First Report from India.

Shastry S et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

The differential expression of the blood group P1 -A4GALT and P2 -A4GALT alleles is stimulated by the transcription factor early growth response 1.

Yeh CC et al.

Transfusion, 2018

Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.

Kaczmarek R et al.

Plos One, 2018

Evaluation of an amino acid residue critical for the specificity and activity of human Gb3/CD77 synthase.

Kaczmarek R et al.

Glycoconjugate Journal, 2016

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Mikołajczyk K et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

Human Gb3/CD77 synthase reveals specificity toward two or four different acceptors depending on amino acid at position 211, creating P(k), P1 and NOR blood group antigens.

Kaczmarek R et al.

Biochemical and Biophysical Research Communications, 2016

Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.

Westman JS et al.

The Journal of Biological Chemistry, 2015

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups.

Lai YJ et al.

Transfusion, 2014

International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).

Storry JR et al.

Vox Sanguinis, 2014

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.

Westman JS et al.

Transfusion, 2013

A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.

Suchanowska A et al.

The Journal of Biological Chemistry, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."