Gene
GALK1
galactokinase 1
- HGNC 4118(opens in a new tab)
- Ensembl gene ENSG00000108479(opens in a new tab)
- NCBI Gene 2584(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 75,757,894–75,765,192 (GRCh38)
- Exons
- 8 exons across 7.3 kb
- Protein
- 392 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- GALK
- MANE Select transcript
- ENST00000588479.6NM_000154.2
- 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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Galactosemia
- Autosomal recessive
Includes classic galactosemia (GALT) and galactokinase (GALK1), epimerase (GALE) and mutarotase (GALM) deficiencies, which can cause life-threatening illness in newborns, liver problems or cataracts; the common Duarte variant on its own usually causes no disease.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows prompt removal of galactose from the diet, which prevents the acute newborn illness and, in galactokinase deficiency, cataracts.
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 GALK1 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 1.4 kb of the gene's 7.3 kb; 1,179 of those bases code for the protein.
How a genome test reads GALK1
123
positions in GALK1 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 7.3 kb of GALK1, introns included, not only the 1.4 kb of exons.
Traits linked to GALK1
The Human Phenotype Ontology lists these as features of the rare conditions GALK1 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.
- 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.). GALK1 gene: galactokinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/galk1
Dante Labs. GALK1 gene: galactokinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/galk1
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