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GBE1 GENE

GBE1 GENE

The GBE1 gene plays a crucial role in glycogen metabolism, helping the body store and use energy efficiently. Mutations in this gene can lead to Glycogen Storage Disease Type IV (GSD IV), a class of disorders that includes Adult Polyglucosan Body Disease (APBD). These diseases can affect various parts of the body, including the muscles, nerves, the brain and spinal cord, urinary bladder, heart, and liver.

See links below to a presentation on prevalence and a current list of mutations on the gene.

For more information on GSD IV, APBD, and related conditions, visit the only international patient advocacy organization dedicated to these diseases:

APBDRF.org

GBE1 Prevalence - December 2024:

GBE1 GeniE Estimate :

https://genie.broadinstitute.org/variant-lists/8a3776e9-7818-46c5-b4c9-77ad07c64d8e/

How Many People Live With GSC IV and APBD - Presentation:

◦ List of current GBE1 mutations - January 2021: