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Reviewed April 2008
What is the official name of the KCNQ1OT1 gene?
The official name of this gene is “KCNQ1 opposite strand/antisense transcript 1 (non-protein coding).”
KCNQ1OT1 is the gene's official symbol. The KCNQ1OT1 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 KCNQ1OT1 gene?
The KCNQ1OT1 gene is located within another gene, KCNQ1. Because the two genes share a region of overlapping DNA, the KCNQ1OT1 gene is also known as KCNQ1 overlapping transcript 1 or KCNQ1 opposite strand/antisense transcript 1. The DNA sequence of two genes is "read" in opposite directions, however, and the genes have very different functions. Unlike the KCNQ1 gene, which provides instructions for making a protein that acts as a potassium channel, the KCNQ1OT1 gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA (a chemical cousin of DNA) is produced from the KCNQ1OT1 gene. This RNA helps regulate genes that are essential for normal growth and development before birth.
People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. The KCNQ1OT1 gene, however, is active only when it is inherited from a person's father. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.
The KCNQ1OT1 gene is part of a cluster of genes on the short (p) arm of chromosome 11 that undergo genomic imprinting. KCNQ1OT1 and several other genes in this cluster are controlled by a nearby region of DNA known as imprinting center 2 (ICR2) or KvDMR. The KCNQ1OT1 gene plays an important role in maintaining the genomic imprinting of these genes. Several of the genes in this cluster are thought to help regulate growth.
How are changes in the KCNQ1OT1 gene related to health conditions?
Where is the KCNQ1OT1 gene located?
Cytogenetic Location: 11p15
Molecular Location on chromosome 11: base pairs 2,608,327 to 2,699,997
The KCNQ1OT1 gene is located on the short (p) arm of chromosome 11 at position 15.
More precisely, the KCNQ1OT1 gene is located from base pair 2,608,327 to base pair 2,699,997 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNQ1OT1?
You and your healthcare professional may find the following resources about KCNQ1OT1 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 KCNQ1OT1 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 KCNQ1OT1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.