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The official name of this gene is “SIX homeobox 5.”
SIX5 is the gene's official symbol. The SIX5 gene is also known by other names, listed below.
The SIX5 gene is part of a group of similar genes known as the SIX gene family. Genes in this family provide instructions for making proteins that bind to DNA and control the activity of other genes. Based on this role, SIX proteins are called transcription factors.
The SIX5 protein interacts with several other proteins, including the EYA1 protein, to regulate the activity of genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues, including the second branchial arch (a structure that gives rise to tissues in the front and side of the neck), the ears, and the kidneys. Researchers have also found the SIX5 protein in the adult brain, heart, eyes, and muscles used for movement (skeletal muscles).
The SIX5 gene belongs to a family of genes called homeobox (homeoboxes).
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.
At least four mutations in the SIX5 gene have been found in people with branchiootorenal (BOR) syndrome. Each of these mutations changes a single protein building block (amino acid) in the SIX5 protein, which prevents SIX5 from interacting with the EYA1 protein effectively. Because this protein interaction is necessary for the activation of certain genes during embryonic development, the altered SIX5 protein disrupts the normal development of many tissues before birth. The major signs and symptoms of branchiootorenal syndrome result from abnormal development of the second branchial arch, ears, and kidneys.
Cytogenetic Location: 19q13.32
Molecular Location on chromosome 19: base pairs 45,764,784 to 45,769,238
The SIX5 gene is located on the long (q) arm of chromosome 19 at position 13.32.
More precisely, the SIX5 gene is located from base pair 45,764,784 to base pair 45,769,238 on chromosome 19.
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 SIX5 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.
amino acid ; branchial arch ; DNA ; embryonic ; gene ; homeobox ; homeodomain ; locus ; protein ; syndrome ; transcription
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.