DISEASES

Disease-gene associations mined from literature

Literature associating GBE1 and Andersen-Tawil syndrome

GBE1 [ENSP00000410833]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM