GENE REFERENCE / HGNC:30171

HSPB8

heat shock protein family B (small) member 8

protein-coding gene12q24.23Gene information

What does this gene do?

The HSPB8 gene provides instructions for making a protein called heat shock protein beta-8. This protein is a member of the heat shock protein family, which helps protect cells that are under stress from factors such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. Heat shock proteins block signals that lead cells to self-destruct (undergo apoptosis). In addition, they appear to be involved in cell movement, stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also seem to play a role in the tensing of muscle fibers (muscle contraction).

Heat shock protein beta-8 is found in cells throughout the body, where it helps fold newly produced proteins and refold damaged proteins. Heat shock protein beta-8 seems to interact with a related protein called heat shock protein beta-1, which is produced from the HSPB1 gene. In nerve cells (neurons), heat shock protein beta-1 helps to organize a network of molecular threads called neurofilaments that maintain the structure of a part of the neuron called the axon. This allows neurons to transmit nerve impulses efficiently. The specific role that heat shock protein beta-8 plays in axons is unclear.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-30. Source review: 2025-03.

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
neuronopathy, distal hereditary motor, autosomal dominantMONDO:0015362 · Evaluated 2021-03-22	Autosomal dominant	DefinitiveCharcot-Marie-Tooth Disease 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: 303
Submissions for variants in or overlapping this gene: 490
Submissions explicitly reporting this gene: 470
Alleles reported pathogenic / likely pathogenic: 17
VariationIDs with uncertain significance: 165
VariationIDs with conflicting classifications: 7

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 HSPB8?

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 17 alleles in HSPB8 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 HSPB8.

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

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