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GALE

UDP-galactose-4-epimerase

The GALE gene provides instructions for the UDP-galactose-4-epimerase enzyme, which is critical for the body's proper metabolism of galactose, a simple sugar. The GALE gene is responsible for producing an enzyme called UDP-galactose-4-epimerase.

Chromosome 1p36.11 Autosomal recessive HGNC:4116 Tier C
GALE 1p36.11 p arm q arm 1

GALE is located on the short (p) arm of chromosome 1, at band 1p36.11. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 1 in the library →

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Clinical tests that include this

Carrier Screening panel
GALE is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions
Newborn Genetic Screening panel
GALE is 1 of 258 genes on this panel
Genomic newborn screening for actionable paediatric conditions

Overview

The GALE gene encodes the enzyme UDP-galactose-4-epimerase, which is fundamental to the body's ability to process galactose. Galactose is a simple sugar found in many foods, often as part of lactose in dairy products.

This enzyme facilitates the interconversion of UDP-galactose and UDP-glucose, which are crucial for energy production and the creation of essential cellular components. Defects in this enzyme's function can lead to metabolic disorders.

What the gene does

The UDP-galactose-4-epimerase enzyme, encoded by the GALE gene, has a dual role in carbohydrate metabolism. It converts UDP-galactose to UDP-glucose, a process that enables the body to utilise galactose for energy by converting it into glucose.

Conversely, the enzyme also catalyses the reverse reaction, converting UDP-glucose back to UDP-galactose. This UDP-galactose is then used as a building block for various galactose-containing proteins and fats. These complex molecules are integral to chemical signalling, forming cellular structures, facilitating molecular transport, and contributing to overall energy production within cells.

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Chromosome location

The GALE gene is situated on chromosome 1, specifically at position 1p36.11. This precise location specifies the gene's address within the human genome.

Protein structure

Domain architecture has not been experimentally characterised in detail for this protein.

Key variants

Variants in the GALE gene can alter the function of the UDP-galactose-4-epimerase enzyme, potentially impacting the body's ability to metabolise galactose effectively. More than 20 different genetic changes in GALE have been identified, primarily affecting single amino acids in the enzyme structure.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for GALE.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.142_143del
Microsatellite
 p.Ser48fs Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.151_154del
Deletion
 p.Arg51fs Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.2T>C
single nucleotide variant
 p.Met1Thr Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.315_316del
Deletion
 p.Tyr105_Arg106delinsTer Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.449C>T
single nucleotide variant
 p.Thr150Met Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.505C>T
single nucleotide variant
 p.Arg169Trp Pathogenic/Likely pathogenic ★★☆☆ Thrombocytopenia 13, syndromic
c.517del
Deletion
 p.Gln173fs Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.715C>T
single nucleotide variant
 p.Arg239Trp Pathogenic/Likely pathogenic ★★☆☆ Thrombocytopenia 13, syndromic
c.749del
Deletion
 p.Gly250fs Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency
c.796-1G>T
single nucleotide variant
 - Pathogenic/Likely pathogenic ★★☆☆ UDPglucose-4-epimerase deficiency

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the GALE gene are associated with galactosaemia type III, also known as galactose epimerase deficiency. This inherited metabolic condition typically manifests shortly after birth, though its severity can vary considerably between affected individuals.

No disease links recorded for this gene in our reference set.

Inheritance pattern

Conditions caused by pathogenic GALE variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous GALE carrier status across ancestry groups?

UK clinical status

The GALE gene is included on several NHS Genomic Medicine Service national panels. It is listed with a 'green' status for conditions such as Cholestasis, Foetal anomalies, Intellectual disability, Likely inborn error of metabolism, Neonatal cholestasis, and Undiagnosed metabolic disorders, indicating its established role in these conditions within the NHS framework.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Cholestasis · R171 NHS GMS → Fetal anomalies · R21 NHS GMS → Likely inborn error of metabolism · R98 NHS GMS → DDG2P NHS GMS → Intellectual disability NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the main function of the GALE gene?

The GALE gene provides instructions for making the UDP-galactose-4-epimerase enzyme, which is essential for converting galactose into glucose and synthesising galactose-containing molecules vital for cell function.

What condition is associated with GALE gene variants?

Variants in the GALE gene are linked to galactosaemia type III, also known as galactose epimerase deficiency, an inherited metabolic disorder that affects the body's ability to process galactose.

Where is the GALE gene located?

The GALE gene is located on chromosome 1 at position 1p36.11 within the human genome.

References

  1. Pey AL, Padín-Gonzalez E, Mesa-Torres N. The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding. Archives of biochemistry and biophysics. 2014. PMID: 25150110
  2. Timson DJ, Lindert S. Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia. Gene. 2013. PMID: 23732289
  3. Timson DJ. The structural and molecular biology of type III galactosemia. IUBMB life. 2006. PMID: 16611573
  4. Timson DJ. Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. The FEBS journal. 2005. PMID: 16302980
  5. Schulz JM, Watson AL, Sanders R. Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase. The Journal of biological chemistry. 2004. PMID: 15175331
  6. Adam MP, Bick S, Mirzaa GM. Epimerase Deficiency Galactosemia. 1993. PMID: 21290786
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 27 September 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .