GENE REFERENCE / HGNC:20207

B3GLCT

beta 3-glucosyltransferase

protein-coding gene13q12.3Gene information

What does this gene do?

The B3GLCT gene (formerly known as B3GALTL) provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. The B3Glc-T enzyme is involved in a two-step glycosylation pathway that results in the formation of a sugar structure, made up of the sugars fucose and glucose, on a specific location of several different proteins. The B3Glc-T enzyme is responsible for the second step, which adds a glucose molecule to the fucose molecule already attached to the protein. The B3GLCT gene is normally turned on (active) in most cells of the body, which suggests that the B3Glc-T enzyme plays an important role across many cell types.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-09.

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
Peters plus syndromeMONDO:0009856 · Evaluated 2026-01-05	Autosomal recessive	DefinitiveCongenital Disorders of Glycosylation 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: 425
Submissions for variants in or overlapping this gene: 766
Submissions explicitly reporting this gene: 714
Alleles reported pathogenic / likely pathogenic: 24
VariationIDs with uncertain significance: 180
VariationIDs with conflicting classifications: 14

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 B3GLCT?

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 24 alleles in B3GLCT 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 B3GLCT.

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

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