Aliases for GANAB Gene
External Ids for GANAB Gene
Previous GeneCards Identifiers for GANAB Gene
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
GeneCards Summary for GANAB Gene
GANAB (Glucosidase II Alpha Subunit) is a Protein Coding gene. Diseases associated with GANAB include Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Calnexin/calreticulin cycle and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is GANC.
UniProtKB/Swiss-Prot Summary for GANAB Gene
Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.