Gene | Gene locus MIM# | Function | Localization of defect | Disease | Inheritance | Initial molecular characterization (PMID) |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5) | 604402 | Alpha 2-3 Sialytransferase (GM3 synthase; adds sialic acid to lactosylceramide) | Golgi | Amish infantile epilepsy syndrome (salt and pepper syndrome) | AR | 15502825 |
Beta-1,4-N-acetyl-galactosaminyltransferase 1 (B4GALNT1) | 601873 | Beta 1-4 GalNAc transferase (GM2/GD2 synthase; catalyzes transfer of N-acetylgalactosamine into GM3, GD3, and globotriaosylceramide by a beta-1,4 linkage) | Golgi | SPG26 | AR | 23746551 |
Alpha 1,4-galactosyltransferase (P blood group) (A4GALT) | 607922 | Alpha 1-4 Galactosyltransferase (GB3 synthase; transfers a galactose to the alpha-1,4 position of lactosylceramide) | Golgi | NOR polyagglutination syndrome | AD | 22965229 |
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