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PSM gene family

Reviewed November 2013

What are the PSM genes?

Genes in the PSM family provide instructions for making parts (subunits) of cell structures called proteasomes. Proteasomes are large complexes that recognize and break down (degrade) unneeded, excess, or abnormal proteins as part of the cell's quality control system. The degradation of proteins by proteasomes is essential for many fundamental cell processes, including regulation of 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.

Although proteasomes are found in cells throughout the body, researchers have discovered at least two specialized types of proteasomes that are specific to certain cells and tissues. Immunoproteasomes are located primarily in immune system cells, where they play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. Thymoproteasomes are found only in the thymus, which is a gland located behind the breastbone that produces white blood cells called lymphocytes. Immunoproteasomes and thymoproteasomes include several subunits that are not part of regular proteasomes; these subunits are also produced from genes in the PSM family.

One PSM family gene, PSMB8, has been found to cause at least three similar conditions with overlapping signs and symptoms. These conditions are Nakajo-Nishimura syndrome; joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. The PSMB8 gene provides instructions for making a subunit that is specific to immunoproteasomes. Through mechanisms that are unclear, mutations in this gene lead to malfunction of the immune system, which triggers abnormal inflammation that can damage tissues throughout the body.

Which genes are included in the PSM gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene familiesThis link leads to a site outside Genetics Home Reference. and their member genes.

Genetics Home Reference summarizes the normal function and health implications of this member of the PSM gene family: PSMB8.

What conditions are related to genes in the PSM gene family?

Genetics Home Reference includes these conditions related to genes in the PSM gene family:

Where can I find additional information about the PSM gene family?

Where can I find general information about genes and gene families?

The Handbook provides basic information about genetics in clear language.

What glossary definitions help with understanding the PSM gene family?

anemia ; atrophy ; atypical ; bacteria ; cell ; chronic ; degradation ; degrade ; differentiation ; gene ; homeostasis ; immune system ; inflammation ; joint ; lipodystrophy ; microcytic anemia ; panniculitis ; proteasome ; protein ; subunit ; syndrome ; thymus ; ubiquitin ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: November 2013
Published: February 1, 2016