2024年12月25日 · PGM3 (Phosphoglucomutase 3) is a Protein Coding gene. Diseases associated with PGM3 include Immunodeficiency 23 and Hyper Ige Syndrome. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Metabolism of proteins.

The PGM3 gene provides instructions for making an enzyme called phosphoglucomutase 3 (PGM3). This enzyme is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids).

PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder's signs and symptoms typically vary.

2024年12月24日 · PGM3 is a critical regulator of CD4+ T-cell proliferation and differentiation. These findings provide new insights into the diverse clinical manifestations and therapeutic development of PGM3 deficiency.

Phosphoglucomutase 3 (PGM3) deficiency is an autosomal recessive syndrome with immunologic phenotypes ranging from a hyper-IgE syndrome to severe combined immunodeficiency (SCID).

PGM3 is a critical regulator of CD4+ T-cell proliferation and differentiation. These findings provide new insights into the diverse clinical manifestations and therapeutic development of PGM3 deficiency. Keywords: PGM3 insufficiency, infections, CD4+ T cells, UDP-GlcNAc, glycosylation.

2018年3月7日 · Here we report the preclinical evaluation of FR054, a novel inhibitor of the HBP enzyme PGM3, with a remarkable anti-breast cancer effect. In fact, FR054 induces in different breast cancer...

2025年2月8日 · PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

The identification of hyper-IgE syndromes-associated mutations in PGM3 provides the basis for future studies on the pathophysiology and the molecular mechanisms of eczema, IgE dysregulation, and increased susceptibility to infections.

2020年7月23日 · Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J. Allergy Clin.