Gene Symbol | ST3GAL3 |
Entrez Gene ID | 6487 |
Full Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
Synonyms | EIEE15,MRT12,SIAT6,ST3GALII,ST3Gal III,ST3GalIII,ST3N |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 12, 611090 (3); ?Epileptic encephalopathy, early infantile, 15, 615006 (3) |