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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.


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

Related Diseases:

Polycystic kidney disease 3



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

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

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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.

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NCBI article

NCBI 23193 external link

OMIM.ORG article

Omim 104160 external link

Orphanet article

Orphanet ID 461381 external link

Wikipedia article

Wikipedia EN (GANAB) external link
Update: Aug. 14, 2020
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