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Literature summary for 2.4.1.92 extracted from

  • Harlalka, G.V.; Lehman, A.; Chioza, B.; Baple, E.L.; Maroofian, R.; Cross, H.; Sreekantan-Nair, A.; Priestman, D.A.; Al-Turki, S.; McEntagart, M.E.; Proukakis, C.; Royle, L.; Kozak, R.P.; Bastaki, L.; Patton, M.; Wagner, K.; Coblentz, R.; Price, J.; Mezei, M.; Schlade-Bartusiak, K.; Platt, F.M.; Hurle, M.E.; Crosby, A.H.
    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis (2013), Brain, 136, 3618-3624.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene B4GALNT1, genotyping and linkage analysis Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
Golgi apparatus
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Homo sapiens 5794
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q00973 gene B4GALNT1
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Source Tissue

Source Tissue Comment Organism Textmining
brain
-
Homo sapiens
-
fibroblast
-
Homo sapiens
-
neuron
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
beta-1,4-N-acetyl-galactosaminyltransferase 1
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Homo sapiens
GM2 synthase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in gene B4GALNT1 are the cause of an unusual neurodegenerative phenotype, most commonly classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Biochemical profiling of glycosphingolipid biosynthesis confirms a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3. In the absence of functional GM2 synthase in the patient cells, there will be a lack of downstream glycosphingolipids as substrates for sialyltransferase, ST3GALII, and this may be the cause of the ectopic sialylation of Gb3 Homo sapiens
metabolism the enzyme catalyzes the second step in complex ganglioside biosynthesis Homo sapiens
physiological function GM2 synthase is a GalNAc transferase responsible for synthesizing GM2, GA2 and GD2. GM2 ganglioside is a sialylated glycosphingolipid that is synthesized in the Golgi apparatus as part of a complex biosynthetic pathway Homo sapiens