Pgm3 gene
Synonym(s)
DefinitionThis section has been translated automatically.
The PGM3 gene, located on chromosome 6q14.1, is a protein-encoding gene that codes for a member of the phosphohexose mutase family. Phosphoglucomutase3 mediates both glycogen formation and glycogen utilization by catalyzing the mutual conversion of glucose-1-phosphate and glucose-6-phosphate.
Clinical pictureThis section has been translated automatically.
Clinically, patients with PGM3 deficiency are characterized by immunological and neurological deficits. The clinical changes(immunodeficiency 23) correspond to hyper IgE syndrome (HIES), such as severe atopic dermatitis, chronic sinusitis or otitis, vasculitides of the skin, severe pneumonia, and very high serum IgE levels (Zhang Y et al. 2014). Skin infections with recurrent staphylococcal and fungal infections and planar warts are common. Additionally, scoliosis and microcephaly have been diagnosed.
A single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy.
LiteratureThis section has been translated automatically.
- Sassi A et al (2014) Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. The Journal of Allergy and Clinical Immunology 133: 1410-1419
- Zhang Y et al (2014) Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment". The Journal of Allergy and Clinical Immunology 133: 1400-1409