ALG5 Chromosome 13
ALG5 dolichyl-phosphate beta-glucosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG5.
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
RS1326771857
Likely pathogenic
Polycystic kidney disease 7, Polycystic kidney disease 7
Health Risk
RS2059045469
Likely pathogenic
Polycystic kidney disease 7, Polycystic kidney disease 7
Health Risk
RS1332833799
Pathogenic
Polycystic kidney disease 7, Polycystic kidney disease 7
Health Risk
RS2501484628
Pathogenic
Polycystic kidney disease 7, Polycystic kidney disease 7
Health Risk
RS2501484936
Pathogenic
Polycystic kidney disease 7, Polycystic kidney disease 7
Health Risk
RS749484470
Pathogenic
Polycystic kidney disease 7, Gastric cancer, Polycystic kidney disease 7
Health Risk
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 |