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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.

Genetests:

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
GANAB

References:

1.

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

external link
2.

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

external link
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.

external link
4.

NCBI article

NCBI 23193 external link
5.

OMIM.ORG article

Omim 104160 external link
6.

Orphanet article

Orphanet ID 461381 external link
7.

Wikipedia article

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