8emr

Structural highlights

Disease

GANAB_HUMAN Autosomal dominant polycystic kidney disease. The disease is caused by variants affecting the gene represented in this entry. GANAB variations may act as a disease modifier in autosomal dominant polycystic liver disease in patients who have causative mutations in other genes, such as PKHD1 or ALG8.^{[1] [2]}

Function

GANAB_HUMAN Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).^{[3] [4]}

References

1. ↑ Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr , 4. PMID:28375157 doi:http://dx.doi.org/10.1172/JCI90129
2. ↑ van de Laarschot LFM, Te Morsche RHM, Hoischen A, Venselaar H, Roelofs HM, Cnossen WR, Banales JM, Roepman R, Drenth JPH. Novel GANAB variants associated with polycystic liver disease. Orphanet J Rare Dis. 2020 Oct 23;15(1):302. doi: 10.1186/s13023-020-01585-4. PMID:33097077 doi:http://dx.doi.org/10.1186/s13023-020-01585-4
3. ↑ Pelletier MF, Marcil A, Sevigny G, Jakob CA, Tessier DC, Chevet E, Menard R, Bergeron JJ, Thomas DY. The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. Glycobiology. 2000 Aug;10(8):815-27. PMID:10929008
4. ↑ Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC. Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004. PMID:27259053 doi:http://dx.doi.org/10.1016/j.ajhg.2016.05.004