Literature associating GBE1 and Andersen-Tawil syndrome
Glucan (1,4-alpha-), branching enzyme 1; Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable); Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.
Synonyms: GBE1, GBE1p, hGBE1, E9PGM4, Q04446 ...