Gene
ALG11
ALG11 alpha-1,2-mannosyltransferase
- HGNC 32456↗(opens in a new tab)
- Ensembl gene ENSG00000253710↗(opens in a new tab)
- NCBI Gene 440138↗(opens in a new tab)
Summary
- Cytogenetic location
- 13q14.3
- Coordinates
- Chromosome 13: 52,012,398–52,033,600 (GRCh38)
- Exons
- 4 exons across 21.2 kb
- Protein
- 492 amino acids
- Also known as
- KIAA0266, CDG1P
- MANE Select transcript
- ENST00000521508.2NM_001004127.3
- 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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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.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
How ALG11 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 6.5 kb of the gene's 21.2 kb; 1,479 of those bases code for the protein.
How a genome test reads ALG11
10
positions in ALG11 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 21.2 kb of ALG11, introns included, not only the 6.5 kb of exons.
Genes linked to the same conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
- ALG1ALG1 chitobiosyldiphosphodolichol beta-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
- ALG6ALG6 alpha-1,3-glucosyltransferaseShares 1 condition
- ALG8ALG8 alpha-1,3-glucosyltransferaseShares 1 condition
- ALG9ALG9 alpha-1,2-mannosyltransferaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- ATP6AP2ATPase H+ transporting accessory protein 2Shares 1 condition
Traits linked to ALG11
The Human Phenotype Ontology lists these as features of the rare conditions ALG11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Low muscle tone
- Decreased muscle tone in infant
- Opisthotonus
- Spasticity and rigidity of muscles
- Abnormality of adipose tissue
- Abnormally shaped skeletal
- Low muscle tone in trunk
- Scoliosis
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.). ALG11 gene: ALG11 alpha-1,2-mannosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/alg11
Dante Labs. ALG11 gene: ALG11 alpha-1,2-mannosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alg11
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