Gene: ST3GAL3
Alternate names for this Gene: DEE15|EIEE15|MRT12|SIAT6|ST3GALII|ST3Gal III|ST3GalIII|ST3N
Gene Summary: The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1p34.1
Description of this Gene: ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Type of Gene: protein-coding