rs137852891
This is a variant in the GBE1 gene that changes a histidine to an arginine.
▶ClinVar annotation
Adult polyglucosan body disease (APBN); Glycogen storage disease IV, classic hepatic; Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form; Glycogen storage disease, type IV (GSD4)
View on ClinVar →About GBE1
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
View all GBE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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