|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “hes family bHLH transcription factor 7.”
HES7 is the gene's official symbol. The HES7 gene is also known by other names, listed below.
The HES7 gene provides instructions for making a transcription factor, which is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The HES7 protein controls the activity of genes in the Notch pathway, an important pathway in embryonic development. The Notch pathway plays a critical role in the development of vertebrae. Specifically, the HES7 protein and the Notch pathway are involved in separating future vertebrae from one another during early development, a complex process called somite segmentation. Although the exact mechanism of somite segmentation is unclear, it appears to require the activity of several proteins in the Notch pathway, including the NOTCH1 protein and the HES7 protein, to be turned on and off in a specific pattern (oscillate).
The HES7 protein turns off (represses) the activity of genes in the Notch pathway, which helps to regulate the activity of the NOTCH1 protein.
The HES7 gene belongs to a family of genes called bHLH (basic helix-loop-helix).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Mutations in the HES7 gene cause a rare type of spondylocostal dysostosis, called spondylocostal dysostosis type 4, which is a condition characterized by abnormal development of bones in the spine and ribs. Mutations in the HES7 gene change single protein building blocks (amino acids) in the HES7 protein. One identified mutation replaces the amino acid arginine with the amino acid tryptophan at position 25 (written as Arg25Trp or R25W). Another mutation replaces the amino acid isoleucine with the amino acid valine at position 58 (written as Ile58Val or I58V). A third mutation replaces the amino acid aspartic acid with the amino acid tyrosine at position 186 (written as Asp186Tyr or D186Y). Because of the amino acid changes, the mutated HES7 protein cannot repress the activity of Notch pathway genes. Consequently, the oscillating pattern of the NOTCH1 protein is disrupted and somite segmentation does not occur properly. This disruption results in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis type 4.
Cytogenetic Location: 17p13.1
Molecular Location on chromosome 17: base pairs 8,120,589 to 8,124,091
The HES7 gene is located on the short (p) arm of chromosome 17 at position 13.1.
More precisely, the HES7 gene is located from base pair 8,120,589 to base pair 8,124,091 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about HES7 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; arginine ; aspartic acid ; class ; DNA ; embryonic ; enhancer ; gene ; isoleucine ; malformation ; mutation ; protein ; transcription ; transcription factor ; tryptophan ; tyrosine ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.