ST3GAL3, Official Symbol ST3GAL3provided by HGNC Official Full Name ST3 beta-galactoside alpha-2,3-sialyltransferase 3provided by HGNC Primary source HGNC:HGNC:10866 See related Ensembl:ENSG00000126091 MIM:606494; AllianceGenome:HGNC:10866 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III 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] Expression Broad expression in testis (RPKM 4.7), fat (RPKM 2.9) and 25 other tissues See more Orthologs mouse all