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Article

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

Molecular genetics and metabolism - 1 Aug 2012

Fermo Elisa, Bianchi Paola, Chiarelli Laurent Roberto, Maggi Maristella, Mandarà Giuseppa Maria Luana, Vercellati Cristina, Marcello Anna Paola, Barcellini Wilma, Cortelezzi Agostino, Valentini Giovanna, Zanella Alberto

Abstract excerpt

Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransfer reaction from 1,3-bisphosphoglycerate to MgADP, to form 3-phosphoglycerate and MgATP. Two isozymes encoded by distinct genes are present in humans: PGK-1, located on Xq-13.3, encodes a ubiquitous protein of 417 amino acids, whereas PGK-2 is testis-specific. PGK1 deficiency is characterized by mild to severe...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22705348
DOI: 10.1016/j.ymgme.2012.05.015

Genes

PGK1
PGK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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