Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Combined Automated Annotation using Multiple IEA Methods

UniProtKB O95394 (AGM1_HUMAN) record

Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Isomerization of GlcNAc6P to GlcNAc1P

Synthesis of UDP-N-acetyl-glucosamine