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Reviewed February 2010
What is the official name of the SQSTM1 gene?
The official name of this gene is “sequestosome 1.”
SQSTM1 is the gene's official symbol. The SQSTM1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SQSTM1 gene?
The SQSTM1 gene provides instructions for making a protein called p62. This protein plays an important role in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. The p62 protein helps regulate this process through its role in a chemical signaling pathway that promotes the formation of osteoclasts. Osteoclasts are specialized cells that break down bone tissue during bone remodeling.
Studies suggest that p62 may have other functions in addition to its role in bone remodeling. It may be involved in recycling worn-out cell parts and unneeded proteins (autophagy), the self-destruction of cells (apoptosis), and the body's immune responses and inflammatory reactions.
How are changes in the SQSTM1 gene related to health conditions?
Where is the SQSTM1 gene located?
Cytogenetic Location: 5q35
Molecular Location on chromosome 5: base pairs 179,233,387 to 179,265,077
The SQSTM1 gene is located on the long (q) arm of chromosome 5 at position 35.
More precisely, the SQSTM1 gene is located from base pair 179,233,387 to base pair 179,265,077 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SQSTM1?
You and your healthcare professional may find the following resources about SQSTM1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SQSTM1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SQSTM1?
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.