CIDeRplusGeneral Information:
| Id: | 13,392 |
| Diseases: |
Ciliopathy
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| Homo sapiens | |
| article | |
| Reference: | Porath B et al.(2016) Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease Am J Hum Genet 98: 1193-1207 [PMID: 27259053] |
Interaction Information:
| Comment | Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or PKD2 (85% and 15% of resolved cases, respectively) are the known causes of ADPKD. Extrarenal manifestations include an increased level of intracranial aneurysms and polycystic liver disease (PLD), which can be severe and associated with significant morbidity. Whole-exome sequencing of six GUR ADPKD-affected families identified one with a missense mutation in GANAB, encoding glucosidase II subunit alpha (GIIalpha). Sanger screening of 321 additional GUR families identified eight further likely mutations (six truncating), and a total of 20 affected individuals were identified in seven ADPKD- and two ADPLD-affected families. The phenotype was mild PKD and variable, including severe, PLD. |
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Formal Description Interaction-ID: 126175 |
gene/protein affects_activity of |
| Comment | Analysis of GANAB-null cells showed an absolute requirement of GIIalpha for maturation and surface and ciliary localization of the ADPKD proteins (PC1 and PC2), and reduced mature PC1 was seen in GANAB(+/-) cells. PC1 surface localization in GANAB(-/-) cells was rescued by wild-type, but not mutant, GIIalpha. |
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Formal Description Interaction-ID: 126176 |
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| Comment | Analysis of GANAB-null cells showed an absolute requirement of GIIalpha for maturation and surface and ciliary localization of the ADPKD proteins (PC1 and PC2), and reduced mature PC1 was seen in GANAB(+/-) cells. PC1 surface localization in GANAB(-/-) cells was rescued by wild-type, but not mutant, GIIalpha. |
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Formal Description Interaction-ID: 126177 |
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