Gene Symbol | B4GALNT1 |
Entrez Gene ID | 2583 |
Full Name | beta-1,4-N-acetyl-galactosaminyltransferase 1 |
Synonyms | GALGT,GALNACT,GalNAc-T,SPG26 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Feb 2013]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 26, autosomal recessive, 609195 (3) |