Gene
ALG8
ALG8 alpha-1,3-glucosyltransferase
- HGNC 23161↗(opens in a new tab)
- Ensembl gene ENSG00000159063↗(opens in a new tab)
- NCBI Gene 79053↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q14.1
- Coordinates
- Chromosome 11: 78,100,946–78,139,626 (GRCh38)
- Exons
- 13 exons across 38.7 kb
- Protein
- 526 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- MGC2840
- MANE Select transcript
- ENST00000299626.10NM_024079.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Polycystic Kidney Disease
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Tolvaptan (Jynarque, FDA 2018) for rapidly progressive ADPKD; blood pressure control (target <110/75); pain management; cyst infection treatment; brain MRA screening for intracranial aneurysms; kidney transplantation for ESRD
Polycystic Liver Disease (1 and 2)
- Polycystic Liver Disease 3Autosomal dominant
A dominantly inherited condition caused by ALG8 variants, with multiple liver cysts and sometimes kidney cysts.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can prompt liver and kidney imaging when symptoms arise.
Broader groupings
Congenital Disorders of Glycosylation
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How ALG8 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.6 kb of the gene's 38.7 kb; 1,581 of those bases code for the protein.
How a genome test reads ALG8
50
positions in ALG8 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 38.7 kb of ALG8, introns included, not only the 1.6 kb of exons.
Genes linked to the same conditions
- ALG9ALG9 alpha-1,2-mannosyltransferaseShares 2 conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
- ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseShares 1 condition
- ALG11ALG11 alpha-1,2-mannosyltransferaseShares 1 condition
- ALG12ALG12 alpha-1,6-mannosyltransferaseShares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseShares 1 condition
- ALG3ALG3 alpha-1,3- mannosyltransferaseShares 1 condition
- ALG5ALG5 dolichyl-phosphate beta-glucosyltransferaseShares 1 condition
- ALG6ALG6 alpha-1,3-glucosyltransferaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
Traits linked to ALG8
The Human Phenotype Ontology lists these as features of the rare conditions ALG8 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated creatinine
- Fluid retention
- Low albumin
- Type I transferrin isoform profile
- High liver enzymes
- Hydrops fetalis
- Low blood sodium levels
- Elevated alkaline phosphatase
Show 2 more traits
Abnormality of the nervous system
- Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Ataxia
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Leukodystrophy
- Leukoencephalopathy
- Underdevelopment of part of brain called corpus callosum
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ALG8 gene: ALG8 alpha-1,3-glucosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/alg8
Dante Labs. ALG8 gene: ALG8 alpha-1,3-glucosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alg8
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