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ST3GAL3

Official Full Name
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Organism
Homo sapiens
GeneID
6487
Background
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. [provided by RefSeq, Jul 2017]
Synonyms
ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III;

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