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Gene

GBE1

1,4-alpha-glucan branching enzyme 1

Summary

Cytogenetic location
3p12.2
Coordinates
Chromosome 3: 81,489,703–81,761,645 (GRCh38)
Exons
16 exons across 271.9 kb
Protein
702 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000429644.7NM_000158.4
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

  • Glycogen Storage Disease

    • Glycogen Storage Disease Type IVAutosomal recessive

      Caused by variants in GBE1, ranging from progressive liver disease in childhood to adult polyglucosan body disease affecting nerves and bladder.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides liver and neurological monitoring and, in severe liver forms, transplant planning.

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 GBE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where GBE1 sits. GBE1 and 0 genes near it on chromosome 3, from 81,125,674 to 82,125,673.Chromosome 33p12.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2981.2 Mb81.4 Mb81.6 Mb81.8 Mb82 MbGBE1: 81,489,703–81,761,645, reverse strandGBE1Diagram of GBE1: 16 exons on the reverse strand of chromosome 3Exon 16: 1 known disease-causing siteExon 15: 4 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 13: 19 known disease-causing sitesExon 12: 16 known disease-causing sitesExon 11: 11 known disease-causing sitesExon 10: 13 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 7: 23 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 18 known disease-causing sitesExon 1: 11 known disease-causing sitesExon 16: 81,489,703–81,490,463, 761 basesExon 15: 81,499,110–81,499,227, 118 basesExon 14: 81,535,195–81,535,325, 131 basesExon 13: 81,536,911–81,537,095, 185 basesExon 12: 81,577,925–81,578,096, 172 basesExon 11: 81,581,165–81,581,275, 111 basesExon 10: 81,586,092–81,586,190, 99 basesExon 9: 81,591,037–81,591,164, 128 basesExon 8: 81,593,908–81,594,023, 116 basesExon 7: 81,642,781–81,642,990, 210 basesExon 6: 81,646,392–81,646,482, 91 basesExon 5: 81,648,856–81,648,991, 136 basesExon 4: 81,649,796–81,649,921, 126 basesExon 3: 81,670,838–81,670,953, 116 basesExon 2: 81,705,444–81,705,613, 170 basesExon 1: 81,761,375–81,761,645, 271 bases161510515′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 2.9 kb of the gene's 271.9 kb; 2,109 of those bases code for the protein.

How a genome test reads GBE1

230

positions in GBE1 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 271.9 kb of GBE1, introns included, not only the 2.9 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.). GBE1 gene: 1,4-alpha-glucan branching enzyme 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gbe1

Vancouver

Dante Labs. GBE1 gene: 1,4-alpha-glucan branching enzyme 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gbe1

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