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Gene

GALE

UDP-galactose-4-epimerase

Summary

Cytogenetic location
1p36.11
Coordinates
Chromosome 1: 23,795,599–23,800,754 (GRCh38)
Exons
12 exons across 5.2 kb
Protein
348 amino acids
Also known as
SDR1E1
MANE Select transcript
ENST00000617979.5NM_001008216.2
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • 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
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      Knowing allows prompt removal of galactose from the diet, which prevents the acute newborn illness and, in galactokinase deficiency, cataracts.

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • 1 GenCC submitter rates it definitive or strong
      Actionability

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How GALE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where GALE sits. GALE and 19 genes near it on chromosome 1, from 23,298,177 to 24,298,176.Chromosome 11p36.11p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4423.4 Mb23.6 Mb23.8 Mb24 Mb24.2 MbHNRNPR: 23,303,771–23,344,658, reverse strandHNRNPRZNF436: 23,359,448–23,369,960, reverse strandZNF436TCEA3: 23,370,591–23,425,169, reverse strandTCEA3ASAP3: 23,428,560–23,484,637, reverse strandASAP3E2F2: 23,506,423–23,531,241, reverse strandE2F2ID3: 23,557,440–23,560,586, reverse strandID3RPL11: 23,691,685–23,698,426, forward strandRPL11ELOA: 23,743,153–23,762,059, forward strandELOAPITHD1: 23,778,365–23,788,232, forward strandPITHD1LYPLA2: 23,791,110–23,795,545, forward strandLYPLA2GALE: 23,795,599–23,800,754, reverse strandGALEHMGCL: 23,801,877–23,838,620, reverse strandHMGCLFUCA1: 23,845,077–23,868,361, reverse strandFUCA1CNR2: 23,870,515–23,913,396, reverse strandCNR2PNRC2: 23,956,839–23,963,776, forward strandPNRC2SRSF10: 23,962,474–23,980,927, reverse strandSRSF10MYOM3: 24,054,822–24,112,190, reverse strandMYOM3IL22RA1: 24,119,769–24,143,301, reverse strandIL22RA1IFNLR1: 24,154,168–24,187,959, reverse strandIFNLR1GRHL3: 24,199,558–24,364,482, forward strandGRHL3Diagram of GALE: 12 exons on the reverse strand of chromosome 1Exon 12: 2 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 6 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 12: 23,795,599–23,796,007, 409 basesExon 11: 23,796,151–23,796,265, 115 basesExon 10: 23,796,509–23,796,586, 78 basesExon 9: 23,796,697–23,796,782, 86 basesExon 8: 23,796,876–23,796,942, 67 basesExon 7: 23,797,034–23,797,147, 114 basesExon 6: 23,797,695–23,797,871, 177 basesExon 5: 23,798,117–23,798,230, 114 basesExon 4: 23,798,615–23,798,730, 116 basesExon 3: 23,798,887–23,799,012, 126 basesExon 2: 23,799,366–23,799,436, 71 basesExon 1: 23,800,712–23,800,754, 43 bases1211109876543215′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 1.5 kb of the gene's 5.2 kb; 1,047 of those bases code for the protein.

Sequencing GALE

53

positions in GALE 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 5.2 kb of GALE, introns included, not only the 1.5 kb of exons.

Genes linked to the same conditions

Traits linked to GALE

The Human Phenotype Ontology lists these as features of the rare conditions GALE can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). GALE gene: UDP-galactose-4-epimerase. Retrieved 17 October 2026, from https://dantelabs.com/genes/gale

Vancouver

Dante Labs. GALE gene: UDP-galactose-4-epimerase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gale

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