GENE REFERENCE / HGNC:4879

HEXB

hexosaminidase subunit beta

protein-coding gene5q13.3Gene information

What does this gene do?

The HEXB gene provides instructions for making a protein that is one part (the beta subunit) of two related enzymes, beta-hexosaminidase A and beta-hexosaminidase B. Each of these enzymes is made up of two subunits. Beta-hexosaminidase A includes one alpha subunit (produced from the HEXA gene) and one beta subunit. Beta-hexosaminidase B is composed of two beta subunits.

Beta-hexosaminidase A and beta-hexosaminidase B play a critical role in nerve cells (neurons) in the brain and spinal cord (central nervous system). In neurons, these enzymes are found in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the beta-hexosaminidase A and B enzymes break down fatty compounds called sphingolipids, complex sugars called oligosaccharides, and molecules that are linked to sugars (such as glycoproteins). In particular, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside.

Source: MedlinePlus, National Library of Medicine. Source publication: 2021-12-15. Source review: 2006-08.

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
Sandhoff diseaseMONDO:0010006 · Evaluated 2022-09-15	Autosomal recessive	DefinitiveLysosomal Diseases 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: 988
Submissions for variants in or overlapping this gene: 1,603
Submissions explicitly reporting this gene: 1,574
Alleles reported pathogenic / likely pathogenic: 277
VariationIDs with uncertain significance: 249
VariationIDs with conflicting classifications: 30

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 HEXB?

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 277 alleles in HEXB 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 HEXB.

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

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