Orphanet: beta 1,4 N acetyl galactosaminyltransferase 1
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B4GALNT1 - beta-1,4-N-acetyl-galactosaminyltransferase 1

  • Synonym(s) : beta1-4GalNAc-T, GD2 synthase, GM2 synthase
  • Previous symbols and names : GALGT, SPG26, UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1, UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuram inyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T), spastic paraplegia 26
  • Type : gene with protein product
  • Chromosomal location : 12q13.3
  • OMIM: 601873
  • HGNC: 4117
  • UniProtKB: Q00973
  • Genatlas: B4GALNT1
  • Ensembl: ENSG00000135454
  • IUPHAR-DB: -
  • Reactome: Q00973
  • LOVD: B4GALNT1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


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