Gene: B4GALNT1

Alternate names for this Gene: GALGT|GALNACT|GalNAc-T|SPG26

Gene Summary: GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: beta-1,4-N-acetyl-galactosaminyltransferase 1

Type of Gene: protein-coding

rs745744124 in B4GALNT1 gene and Dysmorphic features PMID 24103911 2013 Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

PMID 24283893 2014 Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

PMID 23746551 2013 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

rs398122382 in B4GALNT1 gene and SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) PMID 23746551 2013 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.