ALG8 Chromosome 11
ALG8 alpha-1,3-glucosyltransferase
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What This Gene Does
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Alpha-1,3-glucosyltransferases
Locus Type
gene with protein product
Location
11q14.1
Ensembl
ENSG00000159063
Associated Conditions (17)
ALG8 congenital disorder of glycosylation
ALG8-related disorder
Polycystic liver disease 3 with or without kidney cysts
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Sarcoma
Uterine carcinosarcoma
Cervical cancer
Mesothelioma
Lung cancer
Familial cystic renal disease
Inborn genetic diseases
Autosomal dominant polycystic liver disease
See cases
Cystic renal disease
Key Variants
RS112109685
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS1179361051
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
Health Risk
RS138293432
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
Health Risk
RS139106381
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS139832787
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
Health Risk
RS146603801
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS148820351
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS149692072
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS150736564
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, ALG8 congenital disorder of glycosylation
Health Risk
RS199911532
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, Acute myeloid leukemia, Uterine corpus endometrial carcinoma
Health Risk
RS201483866
Conflicting classifications of pathogenicity
ALG8 congenital disorder of glycosylation, ALG8-related disorder, Mesothelioma
Health Risk
RS202112771
Conflicting classifications of pathogenicity
Polycystic liver disease 3 with or without kidney cysts, Familial cystic renal disease, Polycystic liver disease 3 with or without kidney cysts
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2497114146 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts |
| RS376161880 | Health Risk | Pathogenic/Likely pathogenic | Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, See cases |
| RS745894763 | Health Risk | Pathogenic/Likely pathogenic | ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation |
| RS762811727 | Health Risk | Pathogenic/Likely pathogenic | Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation, ALG8-related disorder |
| RS777686455 | Health Risk | Pathogenic/Likely pathogenic | ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, Autosomal dominant polycystic liver disease |
| RS866578354 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic liver disease, ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts |
| RS968741434 | Health Risk | Pathogenic/Likely pathogenic | ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation |