NCBI Description of GBA3
|The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants.|
Community Annotation of GBA3 Add / Edit GBA3: Annotations
No community annotations yet for GBA3.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.