GANAB gene

glucosidase II alpha subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Polycystic kidney disease 3

From UniProt:

Polycystic kidney disease 3 (PKD3): A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. [MIM:600666]

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3

Molecular Location: base pairs 62,624,826 to 62,646,726 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3
  • G2AN
  • GIIA
  • GLUII
  • PKD3