GBE1
MIM.607839 3p12
The GBE1 gene encodes the glycogen branching enzyme, which is involved in glycogen synthesis 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 pack a very large number of glycosyl units into a relatively soluble spherical molecule.
Pathology
germline mutations of GBE1 in type IV glycogen storage disease (GSD4) (MIM.232500)
- fatal perinatal GSD4
- congenital neuromuscular GSD4
- childhood neuromuscular GSD4
- nonprogressive hepatic GSD4
- classic hepatic GSD4
- combined hepatic and muscular GSD4
germline mutations of GBE1 in adult polyglucosan body disease (APBD) (MIM.263570)