免疫原
Synthesized peptide derived from human BTBD9 AA range: 424-474
特异性
This antibody detects endogenous levels of BTBD9 at Human/Mouse/Rat
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景(Background)
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],
功能
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.,
基因名称(Gene Name)
BTBD9 KIAA1880
细胞定位
cytoplasm,SCF ubiquitin ligase complex,
组织表达
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).