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Article

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Molecular immunology - 1 Oct 2017

Ben-Khemis Leila, Mekki Najla, Ben-Mustapha Imen, Rouault Karen, Mellouli Fethi, Khemiri Monia, Bejaoui Mohamed, Essaddam Leila, Ben-Becher Saayda, Boughamoura Lamia, Hassayoun Saida, Ben-Ali Meriem, Barbouche Mohamed-Ridha

Abstract excerpt

Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often...

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Identifiers

PMID: 28704707
DOI: 10.1016/j.molimm.2017.06.248

Genes

PGM3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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