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Gene

ALG6

ALG6 alpha-1,3-glucosyltransferase

Summary

Cytogenetic location
1p31.3
Coordinates
Chromosome 1: 63,367,627–63,438,553 (GRCh38)
Exons
15 exons across 70.9 kb
Protein
507 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000263440.6NM_013339.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Disorders of Glycosylation

    • ALG6-CDGAutosomal recessive

      One of the more common ALG-family congenital disorders of glycosylation, caused by variants in ALG6, with low muscle tone, developmental delay, seizures and poor balance.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
    • 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 definitive
      • 6 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ALG6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where ALG6 sits. ALG6 and 5 genes near it on chromosome 1, from 62,903,090 to 63,903,089.Chromosome 11p31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4463 Mb63.2 Mb63.4 Mb63.6 Mb63.8 MbITGB3BP: 63,320,884–63,593,721, reverse strandITGB3BPFOXD3: 63,322,567–63,325,128, forward strandFOXD3ALG6: 63,367,627–63,438,553, forward strandALG6EFCAB7: 63,523,317–63,572,693, forward strandEFCAB7PGM1: 63,593,151–63,660,245, forward strandPGM1ROR1: 63,773,987–64,181,625, forward strandROR1Diagram of ALG6: 15 exons on the forward strand of chromosome 1Exon 2: 4 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 22 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 11 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 1: 63,367,627–63,367,687, 61 basesExon 2: 63,370,771–63,371,059, 289 basesExon 3: 63,396,513–63,396,597, 85 basesExon 4: 63,402,254–63,402,343, 90 basesExon 5: 63,404,453–63,404,541, 89 basesExon 6: 63,406,317–63,406,399, 83 basesExon 7: 63,407,062–63,407,126, 65 basesExon 8: 63,411,146–63,411,331, 186 basesExon 9: 63,411,926–63,412,061, 136 basesExon 10: 63,414,061–63,414,146, 86 basesExon 11: 63,415,873–63,415,957, 85 basesExon 12: 63,419,370–63,419,440, 71 basesExon 13: 63,428,733–63,428,801, 69 basesExon 14: 63,428,928–63,429,126, 199 basesExon 15: 63,436,823–63,438,553, 1,731 bases12468101214155′3′

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 3.3 kb of the gene's 70.9 kb; 1,524 of those bases code for the protein.

How a genome test reads ALG6

144

positions in ALG6 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 70.9 kb of ALG6, introns included, not only the 3.3 kb of exons.

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

APA

Dante Labs. (n.d.). ALG6 gene: ALG6 alpha-1,3-glucosyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/alg6

Vancouver

Dante Labs. ALG6 gene: ALG6 alpha-1,3-glucosyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/alg6

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