GENE REFERENCE / HGNC:4116

GALE

UDP-galactose-4-epimerase

protein-coding gene1p36.11Gene information

What does this gene do?

The GALE gene provides instructions for making an enzyme called UDP-galactose-4-epimerase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas.

UDP-galactose-4-epimerase converts a modified form of galactose (UDP-galactose) to another modified sugar (UDP-glucose). Glucose is a simple sugar that is the main energy source for most cells. This enzyme also promotes the reverse chemical reaction, the conversion of UDP-glucose to UDP-galactose. UDP-galactose is used to build galactose-containing proteins and fats, which play critical roles in chemical signaling, building cellular structures, transporting molecules, and producing energy.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2008-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
galactose epimerase deficiencyMONDO:0009257 · Evaluated 2023-09-29	Autosomal recessive	DefinitiveGeneral Inborn Errors of Metabolism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 454
Submissions for variants in or overlapping this gene: 701
Submissions explicitly reporting this gene: 682
Alleles reported pathogenic / likely pathogenic: 61
VariationIDs with uncertain significance: 129
VariationIDs with conflicting classifications: 25

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GALE?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 61 alleles in GALE reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GALE.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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