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:
Related Diseases:
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.
|
4. |
NCBI article
NCBI 23193
|
5. |
OMIM.ORG article
Omim 104160
|
6. |
Orphanet article
Orphanet ID 461381
|
7. |
Wikipedia article
Wikipedia EN (GANAB)
|
Update: Aug. 14, 2020