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Gene

GLUD1

glutamate dehydrogenase 1

Summary

Cytogenetic location
10q23.2
Coordinates
Chromosome 10: 87,050,202–87,094,843 (GRCh38)
Exons
13 exons across 44.6 kb
Protein
558 amino acids
Inheritance
Autosomal dominant
Also known as
GDH, GDH1, hGDH1
Previous symbols
GLUD
MANE Select transcript
ENST00000277865.5NM_005271.5
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 reports relevant to this gene

  • Hyperinsulinism

    • Islet Cell AdenomatosisAutosomal dominant

      A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.

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

    • Abnormally high levels of insulin in the blood.

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

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

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

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

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 GLUD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where GLUD1 sits. GLUD1 and 12 genes near it on chromosome 10, from 86,572,523 to 87,572,522.Chromosome 1010q23.2p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.386.6 Mb86.8 Mb87 Mb87.2 Mb87.4 Mb: 86,654,518–86,700,020, forward strandOPN4: 86,654,518–86,666,460, forward strandOPN4LDB3: 86,666,664–86,736,903, forward strandLDB3BMPR1A: 86,755,751–86,932,825, forward strandBMPR1AMMRN2: 86,935,540–86,969,481, reverse strandMMRN2SNCG: 86,955,753–86,963,264, forward strandSNCGADIRF: 86,968,432–87,007,922, forward strandADIRFFAM25A: 87,020,238–87,060,609, forward strandFAM25AGLUD1: 87,050,202–87,094,843, reverse strandGLUD1SHLD2: 87,094,006–87,191,478, forward strandSHLD2NUTM2A: 87,225,448–87,236,908, forward strandNUTM2ANUTM2D: 87,357,720–87,370,695, forward strandNUTM2DMINPP1: 87,504,859–87,555,094, forward strandMINPP1Diagram of GLUD1: 13 exons on the reverse strand of chromosome 10Exon 12: 3 known disease-causing sitesExon 11: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 13: 87,050,202–87,051,870, 1,669 basesExon 12: 87,053,342–87,053,404, 63 basesExon 11: 87,057,691–87,057,782, 92 basesExon 10: 87,059,150–87,059,273, 124 basesExon 9: 87,060,161–87,060,241, 81 basesExon 8: 87,060,688–87,060,825, 138 basesExon 7: 87,060,915–87,061,052, 138 basesExon 6: 87,062,656–87,062,835, 180 basesExon 5: 87,068,063–87,068,157, 95 basesExon 4: 87,074,551–87,074,614, 64 basesExon 3: 87,075,968–87,076,023, 56 basesExon 2: 87,076,576–87,076,656, 81 basesExon 1: 87,094,325–87,094,843, 519 bases131210864215′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 44.6 kb; 1,677 of those bases code for the protein.

How a genome test reads GLUD1

7

positions in GLUD1 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 44.6 kb of GLUD1, 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.). GLUD1 gene: glutamate dehydrogenase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/glud1

Vancouver

Dante Labs. GLUD1 gene: glutamate dehydrogenase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/glud1

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