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Article

Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.

The Biochemical journal - 1 Dec 1993

Putt W, Ives J H, Hollyoake M, Hopkinson D A, Whitehouse D B, Edwards Y H

Abstract excerpt

In view of its central role in glycolysis and gluconeogenesis and its polymorphic genetic variability, the phosphoglucomutase 1 (PGM1) gene in man has been the target of protein structural studies and genetic analysis for more than 25 years. We have now isolated genomic clones containing the complete PGM1 gene and have shown that it spans over 65 kb and contains 11 exons. We have also shown that the sites of the...

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Identifiers

PMID: 8257433
DOI: 10.1042/bj2960417
PMCID: PMC1137712

Genes

PGM1

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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Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.PMID 8257433Read ↗

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Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamilySemantic proximity Read ↗

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.Semantic proximity Read ↗

The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.Semantic proximity Read ↗

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.Semantic proximity Read ↗

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.Semantic proximity Read ↗

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