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FB2026_01
,
released March 12, 2026
This report describes restless legs syndrome 6 (RLS6), which is described as a susceptibility locus for RLS. In genome-wide association studies (GWAS), the region of the human BTBD9 gene has been associated with restless legs syndrome; subsequent work in humans has resulted in tentative association of this gene with RLS6 (see MIM:611185). BTBD9 encodes a BTB/POZ domain-containing protein. There is a single orthologous gene in Drosophila, also designated BTBD9, for which classical amorphic and loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human gene has not been introduced into flies.
Experiments in flies support the association of BTBD9 with RLS. Animals homozygous for amorphic mutations of Dmel\BTBD9 exhibit sleep fragmentation and increased motor activity. Sleep fragmentation is also observed when RNAi knockdown of Dmel\BTBD9 is targeted to dopaminergic neurons. Therapeutic drug assayed: feeding flies the dopamine agonist Pramipexole results in amelioration of the amorphic phenotypes. A single genetic interaction has been described for Dmel\BTBD9; see the BTBD9 gene report.
[updated Feb. 2017 by FlyBase; FBrf0222196]
Early-onset and late-onset forms of restless legs syndrome have been described. The early-onset form begins before age 45, and sometimes as early as childhood; the and symptoms of this form usually worsen slowly with time. The late-onset form begins after age 45; its symptoms tend to worsen more rapidly. [from Genetics Home Reference; restless legs syndrome; 2017.02.16]
Restless legs syndrome (RLS) is a neurologic disorder characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements (Stefansson et al., 2007; pubmed:17634447). The disorder can result in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003; pubmed:12764067). [from MIM:611185, MIM:102300; 2017.01.10]
[RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6](https://omim.org/entry/611185)
[RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6](https://omim.org/entry/611185)
See general description of restless legs syndrome, above.
BTBD9 is associated with restless legs syndrome in multiple GWAS studies (see GWAS Catalog, below in 'External links').
In genome-wide association studies, the region of the BTBD9 gene has been associated with restless legs syndrome (RLS); subsequent work has resulted in tentative association of this gene with RLS6. [from MIM:611185; 2017.0216]
The BTBD9 gene encodes a BTB/POZ domain-containing protein; this domain is a structural motif that mediates protein-protein interactions. [from Gene Cards, BTBD9 gene; 2017.02.16]
One to one (1 human to 1 Drosophila).
High-scoring ortholog of human BTBD9 (1 Drosophila to 1 human); Dmel\BTBD9 shares 50% identity and 67% similarity with the human gene.