GBA Back

glucosidase, beta; acid (includes glucosylceramidase)

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NCBI Description of GBA
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Community Annotation of GBA Add / Edit GBA: 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).


Legend

GBA is highly significantly mutated in
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GBA is significantly mutated in
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GBA 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 GBA