DISEASES

Disease-gene associations mined from literature

Literature associating GBE1 and hyperkalemic periodic paralysis

GBE1 [ENSP00000410833]

1,4-alpha-glucan-branching enzyme; Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). 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