PGM1 Antibody

1. PGM1 deficiency has been recognized as a cause of the congenital disorders of glycosylation. PMID: 29858906
2. The structural perturbation resulting from mutation of this single amino acid reveals the molecular mechanism underlying PGM1 deficiency in these missense variants. PMID: 28117557
3. Homozygous mutation in the PGM1 gene is associated with PGM1 deficiency. PMID: 26768186
4. analysis of the structural basis of PGM1 enzyme dysfunction in PGM1 deficiency PMID: 26972339
5. both PGM1 protein misfolding and catalytic impairment may play a role in PGM1 deficiency PMID: 25288802
6. PGM1 is required for sustained cell growth during nutritional changes PMID: 24952355
7. Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. PMID: 24499211
8. The analysis involved the data on nine polymorphic codominant loci: HP, GC, TF, PI, PGM1, GLO1, C3, ACP1, and ESD. The loci were selected by significance of differences in genotype frequencies between tuberculosis patients and healthy controls PMID: 12942785
9. Results report a novel human protein, calphoglin, which activates inorganic pyrophosphatase (IPP) and enhances phosphoglucomutase activity through the activated IPP. PMID: 15522220
10. During extrauterine life, females carrying the PGM1*2 allele are relatively protected from extreme body mass increase, and during intrauterine life, PGM1*2/*2 homozygotes show a tendency to low body mass increase. PMID: 18091362
11. There is a correlation between glomerular expression of MCP-1 and PGM1 and worsening renal prognosis in paediatric lupus nephritis. PMID: 18495743
12. ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress. The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of dilated cardiomyopathy. PMID: 19377068

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HGNC: 8905

OMIM: 171900

KEGG: hsa:5236

UniGene: Hs.1869