GANAB

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]

Description

Glucosidase II alpha subunit

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (62624826 - 62646726)

Ensembl ID

ENSG00000089597  (ver. 103.38)

Orthologs

Mouse Ganab: ENSMUSG00000071650

UniProt

Q14697

neXtProt

NX_Q14697

Human splice variants
Mouse splice variants

Protein structure