Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neutral alpha-glucosidase AB

The GANAB gene encodes an enzyme that play a role in maturation and surface localization of cilia. Mutations cause autosomal dominant polycystic liver and kidney disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Polycystic kidney disease 3
GANAB

References:

1.

Porath B et. al. (2016) Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

[^]
2.

Martiniuk F et. al. (1983) Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11.

[^]
3.

Trombetta ES et. al. (1996) Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit.

[^]
Update: Sept. 26, 2018