ST3GAL3
Function
Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 12
MRT12
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Developmental and epileptic encephalopathy 15
DEE15
A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein glycosylation.
Post-translational modifications
The soluble form derives from the membrane form by proteolytic processing.
Sequence Similarities
Belongs to the glycosyltransferase 29 family.
Tissue Specificity
Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.
Cellular localization
- Golgi apparatus
- Golgi stack membrane
- Single-pass type II membrane protein
- Secreted
- Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.
Alternative names
SIAT6, ST3GAL3, ST3Gal III, ST3N, Sialyltransferase 6, ST3GalIII