Gene
H6PD
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
- HGNC 4795↗(opens in a new tab)
- Ensembl gene ENSG00000049239↗(opens in a new tab)
- NCBI Gene 9563↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.22
- Coordinates
- Chromosome 1: 9,234,774–9,271,337 (GRCh38)
- Exons
- 5 exons across 36.6 kb
- Protein
- 791 amino acids
- Also known as
- H6PDH
- Previous symbols
- GDH
- MANE Select transcript
- ENST00000377403.7NM_004285.4
- 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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No Genome Test report reads H6PD yet. The test sequences your whole genome, so your data includes it all the same.
How H6PD 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 9.1 kb of the gene's 36.6 kb; 2,376 of those bases code for the protein.
How a genome test reads H6PD
3
positions in H6PD 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 36.6 kb of H6PD, introns included, not only the 9.1 kb of exons.
Traits linked to H6PD
The Human Phenotype Ontology lists these as features of the rare conditions H6PD can cause. Each trait's page lists the other genes linked to it.
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.
- 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.). H6PD gene: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase. Retrieved 16 October 2026, from https://dantelabs.com/genes/h6pd
Dante Labs. H6PD gene: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/h6pd
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