Cloned (Comment) | Organism |
---|---|
gene B4GALNT1, genotyping and linkage analysis | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
Golgi apparatus | - |
Homo sapiens | 5794 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q00973 | gene B4GALNT1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
neuron | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
beta-1,4-N-acetyl-galactosaminyltransferase 1 | - |
Homo sapiens |
GM2 synthase | - |
Homo sapiens |
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 |