beta-1,4-N-acetyl-galactosaminyl transferase 1

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NCBI Description of B4GALNT1

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.

Community Annotation of B4GALNT1 Add / Edit B4GALNT1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


B4GALNT1 is highly significantly mutated in
B4GALNT1 is significantly mutated in
B4GALNT1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for B4GALNT1