The b4galnt2 gene encodes a beta-1,4-n-acetyl-galactosaminyltransferase 2, which is a glycosyltransferase enzyme localized to the golgi apparatus. this enzyme functions in protein glycosylation pathway...[+]

The b4galnt2 gene encodes a beta-1,4-n-acetyl-galactosaminyltransferase 2, which is a glycosyltransferase enzyme localized to the golgi apparatus. this enzyme functions in protein glycosylation pathways, specifically catalyzing the transfer of n-acetylgalactosamine to form glycosphingolipids like ganglioside gm2 and ga2. expression is documented in the brain, neural tube, eye, otic vesicle, pronephros, and gastrointestinal tract. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD