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Reviewed July 2010
What is the official name of the SEPN1 gene?
The official name of this gene is “selenoprotein N, 1.”
SEPN1 is the gene's official symbol. The SEPN1 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 SEPN1 gene?
The SEPN1 gene provides instructions for making a protein called selenoprotein N, 1. This protein is part of a family of selenoproteins, which have several critical functions within the body. Selenoproteins are primarily involved in chemical reactions called oxidation-reduction reactions, which are essential for protecting cells from damage caused by unstable oxygen-containing molecules. Selenoprotein N, 1 is likely involved in protecting cells against oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that damage or kill cells.
The exact function of selenoprotein N, 1 is unknown. This protein is highly active in many tissues before birth and may be involved in the formation of muscle tissue (myogenesis). Selenoprotein N, 1 may also be important for normal muscle function after birth, although it is active at much lower levels in adult tissues. This protein contains a region that likely allows it to bind to calcium. This region is of interest because calcium plays an important role in triggering muscle contractions, which allow the body to move.
How are changes in the SEPN1 gene related to health conditions?
Where is the SEPN1 gene located?
Cytogenetic Location: 1p36.13
Molecular Location on chromosome 1: base pairs 26,126,666 to 26,144,712
The SEPN1 gene is located on the short (p) arm of chromosome 1 at position 36.13.
More precisely, the SEPN1 gene is located from base pair 26,126,666 to base pair 26,144,712 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SEPN1?
You and your healthcare professional may find the following resources about SEPN1 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 SEPN1 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 SEPN1?
acids ; amino acid ; calcium ; congenital ; decreased muscle tone ; free radicals ; gene ; glycine ; hypotonia ; Mb ; muscle tone ; muscular dystrophy ; mutation ; oxidation ; oxidative stress ; oxygen ; protein ; scoliosis ; serine ; stress ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.