Gene Symbol | GANAB |
Entrez Gene ID | 23193 |
Full Name | glucosidase II alpha subunit |
Synonyms | G2AN,GIIA,GLUII,PKD3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Polycystic kidney disease 3, 600666 (3) |