1,4-alpha-glucan-branching enzyme (glycogen-branching enzyme, brancher enzyme, GBE1)
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Function
- required for sufficient glycogen accumulation
- alpha 1-6 branches of glycogen play an important role in increasing solubility of the molecule &, consequently, in diminishing osmotic pressure within cells
- glycan biosynthesis, glycogen biosynthesis
- transfers a segment of a 1,4-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain
Structure
belongs to the glycosyl hydrolase 13 family
Expression
highest levels found in liver & muscle
Pathology
- defects in GBE1 are the cause of glycogen storage disease type 4
- neuromuscular perinatal glycogen storage disease type 4
- defects in GBE1 are the cause of adult polyglucosan body disease