GLB1 Back

galactosidase, beta 1

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NCBI Description of GLB1

This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of GLB1 Add / Edit GLB1: Annotations

No community annotations yet for GLB1.
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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).


Legend

GLB1 is highly significantly mutated in
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GLB1 is significantly mutated in
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GLB1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for GLB1