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Gene

GALT

galactose-1-phosphate uridylyltransferase

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 34,646,675–34,651,035 (GRCh38)
Exons
11 exons across 4.4 kb
Protein
379 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000378842.8NM_000155.4
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 reports relevant to this gene

  • Female Infertility

    • Diminished or absent ability of a female to achieve conception.

      • 4 GenCC submitters rate it definitive or strong

  • 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.

      • 5 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 GALT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 9, with a bracket where GALT sits. GALT and 30 genes near it on chromosome 9, from 34,148,855 to 35,148,854.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.334.2 Mb34.4 Mb34.6 Mb34.8 Mb35 MbUBAP1: 34,179,005–34,252,523, forward strandUBAP1KIF24: 34,248,327–34,329,282, reverse strandKIF24NUDT2: 34,329,496–34,343,713, forward strandNUDT2MYORG: 34,366,623–34,377,150, reverse strandMYORGSPMIP6: 34,379,019–34,397,828, reverse strandSPMIP6FAM219A: 34,398,184–34,458,591, reverse strandFAM219ADNAI1: 34,457,414–34,520,988, forward strandDNAI1ENHO: 34,521,043–34,523,174, reverse strandENHOCNTFR: 34,551,423–34,593,478, reverse strandCNTFRRPP25L: 34,610,486–34,612,605, reverse strandDCTN3: 34,613,545–34,620,529, reverse strandARID3C: 34,621,049–34,630,503, reverse strandSIGMAR1: 34,631,716–34,637,844, reverse strandSIGMAR1: 34,646,631–34,661,886, forward strandGALT: 34,646,675–34,651,035, forward strandGALTIL11RA: 34,651,582–34,661,902, forward strandIL11RACCL27: 34,661,880–34,664,048, reverse strand: 34,664,163–34,666,122, reverse strandCCL19: 34,689,562–34,691,355, reverse strandCCL21: 34,709,005–34,710,167, reverse strandCCL21SPATA31F1: 34,719,196–34,729,538, reverse strandSPATA31F1SPATA31F3: 34,889,062–34,895,797, reverse strandSPATA31F3PHF24: 34,957,608–34,982,544, forward strandPHF24DNAJB5: 34,989,641–34,999,403, forward strandDNAJB5SPATA31G1: 35,041,095–35,045,986, forward strandSPATA31G1VCP: 35,053,928–35,072,725, reverse strandVCP: 35,065,339–35,074,175, reverse strandFANCG: 35,073,793–35,082,444, reverse strandFANCGPIGO: 35,085,492–35,096,632, reverse strandSTOML2: 35,099,469–35,103,195, reverse strandATOSB: 35,104,112–35,116,357, reverse strandATOSBDiagram of GALT: 11 exons on the forward strand of chromosome 9Exon 1: 14 known disease-causing sitesExon 2: 34 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 34 known disease-causing sitesExon 6: 21 known disease-causing sitesExon 7: 36 known disease-causing sitesExon 8: 22 known disease-causing sitesExon 9: 18 known disease-causing sitesExon 10: 36 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 1: 34,646,675–34,646,786, 112 basesExon 2: 34,647,089–34,647,258, 170 basesExon 3: 34,647,492–34,647,567, 76 basesExon 4: 34,647,657–34,647,705, 49 basesExon 5: 34,647,832–34,647,961, 130 basesExon 6: 34,648,115–34,648,171, 57 basesExon 7: 34,648,334–34,648,456, 123 basesExon 8: 34,648,762–34,648,894, 133 basesExon 9: 34,648,998–34,649,081, 84 basesExon 10: 34,649,410–34,649,564, 155 basesExon 11: 34,650,369–34,651,035, 667 bases12345678910115′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 1.8 kb of the gene's 4.4 kb; 1,140 of those bases code for the protein.

How a genome test reads GALT

275

positions in GALT 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 4.4 kb of GALT, introns included, not only the 1.8 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.). GALT gene: galactose-1-phosphate uridylyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/galt

Vancouver

Dante Labs. GALT gene: galactose-1-phosphate uridylyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/galt

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