ALG5 Chromosome 13

ALG5 dolichyl-phosphate beta-glucosyltransferase
6 variants 6 Health Risk

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What This Gene Does
This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
Glycosyltransferase family 2
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000120697
Associated Conditions (2)
Polycystic kidney disease 7
Gastric cancer
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS1326771857 Health Risk Likely pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2059045469 Health Risk Likely pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS1332833799 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2501484628 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2501484936 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS749484470 Health Risk Pathogenic Polycystic kidney disease 7, Gastric cancer, Polycystic kidney disease 7
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