OGT was identified as a potential promising placental biomarker of maternal stress exposure that may relate to sex-biased outcomes in neurodevelopment; maternal stress is a key risk factor for neurodevelopmental disorders, including schizophrenia and autism, which often exhibit a sex bias in rates of presentation, age of onset, and symptom severity (Howerton et al., 2013).
Molecular Function
This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Glycosylates a large and diverse number of proteins including histone H2B, AKT1, PFKL, MLL5, MAPT/TAU and HCFC1 and can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
O-GlcNAc transferase (OGT) as a placental biomarker of maternal stress and reprogramming of CNS gene transcription in development.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
