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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

BTBD9

The information on this page was automatically extracted from online scientific databases.

What is the official name of the BTBD9 gene?

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.

What is the normal function of the BTBD9 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/114781):

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]

How are changes in the BTBD9 gene related to health conditions?

Genetics Home Reference provides information about restless legs syndrome, which is associated with changes in the BTBD9 gene.
UniProt (http://www.uniprot.org/uniprot/Q96Q07) provides the following information about the BTBD9 gene's known or predicted involvement in human disease.

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.

OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the BTBD9 gene and its association with health conditions.
OMIM
Number
Title

Where is the BTBD9 gene located?

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.

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.

Where can I find additional information about BTBD9?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BTBD9 gene or gene products?

  • dJ322I12.1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding BTBD9?

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.

 
Published: January 27, 2015