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Article

A noncoding ABO variant suggests a trafficking defect in COPI-GOLPH3-mediated glycosyltransferase recycling.

International journal of biological macromolecules - 1 Jun 2026

Yang Yi-Cheng, Zhou Shi-Hang, Zhao Wei

Abstract excerpt

We report a mechanism linking an intronic ABO splicing mutation to weak A antigen expression. A two-base deletion in intron 1 (c.28 + 2_28 + 3delTG) disrupts canonical splicing, causing aberrant extension of the cytoplasmic tail of the A-type glycosyltransferase (GTA), a key biological macromolecule responsible for blood group biosynthesis. Integration of long-read sequencing, splicing assays, and molecular...

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Share to ABO Blood-Group System
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42144153
DOI: 10.1016/j.ijbiomac.2026.152567

Genes

ABO
GOLPH3
GOLPH3L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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