|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “BTB (POZ) domain containing 9.”
BTBD9 is the gene's official symbol. The BTBD9 gene is also known by other names, listed below.
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Restless legs syndrome 6 (RLS6): A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. Disease susceptibility may be associated with variations affecting the gene represented in this entry.
|611185 (http://omim.org/entry/611185)||RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6|
|611237 (http://omim.org/entry/611237)||BTB/POZ DOMAIN-CONTAINING PROTEIN 9|
Cytogenetic Location: 6p21
Molecular Location on chromosome 6: base pairs 38,168,450 to 38,640,425
The BTBD9 gene is located on the short (p) arm of chromosome 6 at position 21.
More precisely, the BTBD9 gene is located from base pair 38,168,450 to base pair 38,640,425 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
chronic ; domain ; gene ; insomnia ; involuntary ; locus ; neurologic ; nocturnal ; protein ; susceptibility ; syndrome ; transcript
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.