ALG13, UDP-N-acetylglucosaminyltransferase subunit
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities.
Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.
From NCBI Gene:
- Epileptic encephalopathy, early infantile, 36
Epileptic encephalopathy, early infantile, 36 (EIEE36): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some EIEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:300884]