2024年12月25日 · 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 Early SARS-CoV-2 Infection Events and Translation of Structural Proteins.

Neutral alpha-glucosidase AB is an enzyme that in humans is encoded by the GANAB gene. [5] [6] [7]

Whole-exome sequencing of six GUR ADPKD-affected families identified one with a missense mutation in GANAB, encoding glucosidase II subunit α (GIIα). Because PRKCSH encodes GIIβ, GANAB is a strong ADPKD and ADPLD candidate gene.

2025年2月9日 · Mutations in GANAB gene is associated with Autosomal-Dominant Polycystic Kidney and Liver Disease. The high frequency of glucosidase II overexpression, which to the best of our knowledge has not been previously described, indicates its crucial roles in lung tumorigenesis and is thus a valuable biomarker

2022年7月25日 · The elevated expression of GANAB is a novel indicator of poorer prognosis of UC. Our data suggests that GANAB is not only a new and promising prognostic biomarker for UC, but also may provide important cues for the development of …

2018年2月19日 · Human tissues contain 2 isozymes of neutral alpha-glucosidase designated AB (GANAB) and C (GANC; 104180). Initially distinguished on the basis of differences in electrophoretic mobility in starch gel, the two have been shown to have other differences including those of substrate specificity.

2016年6月2日 · Whole-exome sequencing of six GUR ADPKD-affected families identified one with a missense mutation in GANAB, encoding glucosidase II subunit α (GIIα). Because PRKCSH encodes GIIβ, GANAB is a strong ADPKD and ADPLD candidate gene.

2020年10月23日 · Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB variants. GANAB encodes the α-subunit of glucosidase II (GIIα).

2020年10月23日 · GANAB encodes the α-subunit of glucosidase II (GIIα). Here, we report the identification of novel GANAB variants in an international cohort of patients with the primary phenotype of PLD using molecular inversion probe analysis.

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 …