disease:Genetic variations in BTBD9 are associated with susceptibility to restless legs syndrome type 6 (RLS6) [MIM:611185]; also called periodic limb movements in sleep. 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 that occur during sleep.,similarity:Contains 1 BACK (BTB/Kelch associated) domain.,similarity:Contains 1 BTB (POZ) domain.,tissue specificity:Highly expressed in kidney and moderately expressed in all other adult and fetal tissues. Moderately expressed in all specific brain regions examined.,
cytoplasm,SCF ubiquitin ligase complex,
Detected in the brain (at protein level) (PubMed:22658601). Moderately expressed in all specific brain regions examined (PubMed:11572484). Expressed in the dopaminergic neurons of the substantia nigra and A11 neurons (PubMed:22658601). Highly expressed in kidney and moderately expressed in all other adult and fetal tissues (PubMed:11572484).
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