GENE REFERENCE / HGNC:9545
PSMB8
proteasome 20S subunit beta 8
What does this gene do?
The PSMB8 gene provides instructions for making one part (subunit) of cell structures called immunoproteasomes. Immunoproteasomes are specialized versions of proteasomes, which are large complexes that recognize and break down (degrade) unneeded, excess, or abnormal proteins within cells. This activity is necessary for many essential cell functions. While proteasomes are found in many types of cells, immunoproteasomes are located primarily in immune system cells. These structures play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. One of the primary functions of immunoproteasomes is to help the immune system distinguish the body's own proteins from proteins made by foreign invaders, so the immune system can respond appropriately to infection.
Immunoproteasomes may also have other functions in immune system cells and possibly in other types of cells. They appear to be involved in some of the same fundamental cell activities as regular proteasomes, such as regulating the amount of various proteins in cells (protein homeostasis), cell growth and division, the process by which cells mature to carry out specific functions (differentiation), chemical signaling within cells, and the activity of genes. Studies suggest that, through unknown mechanisms, the subunit produced from the PSMB8 gene in particular may be involved in the maturation of fat cells (adipocytes).
Related condition topics
MedlinePlus mentions this gene in the condition pages below. These links alone do not show that the gene causes a condition.
ClinGen reviews
We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.
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
- 295
- Submissions for variants in or overlapping this gene
- 504
- Submissions explicitly reporting this gene
- 490
- Alleles reported pathogenic / likely pathogenic
- 23
- VariationIDs with uncertain significance
- 126
- VariationIDs with conflicting classifications
- 16
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 ↗
YOUR DNA FILE
Can your DNA file tell you about PSMB8?
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 23 alleles in PSMB8 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 PSMB8.
BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-10-10.
HGNC Source details
Source release: Fri, 09 Oct 2026 13:40:45 GMT
Source record updated: 2023-06-07
SHA-256: e4cd9c6d7120051b80e5e61d2aeb98bd6a541ddd21f428a6eab922c11242e053
MedlinePlus Source details
Source release: Sat, 10 Oct 2026 05:16:07 GMT
Source publication: 2023-04-19
Source review: 2013-11
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
ClinVar Source details
Source release: Sun, 04 Oct 2026 13:15:29 GMT
SHA-256: 126d9e5bded1d43c0380ac6684c86f9aab056d2ff2be93d743e408ed917ae558
About the library sources · Latest validated release · Record c33d5cb333da