PGM3 Antibody

1. Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. PMID: 28543917
2. study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia PMID: 28704707
3. PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile. PMID: 26687240
4. Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family. PMID: 26482871
5. define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes PMID: 24931394
6. Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype. PMID: 24698316
7. Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. PMID: 24589341
8. Polymorphic analysis of the human phosphoglucomutase-3 gene. PMID: 20221814
9. PGM(3) is identical to AGM(1). PMID: 12174217

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HGNC: 8907

OMIM: 172100

KEGG: hsa:5238

STRING: 9606.ENSP00000425809

UniGene: Hs.661665