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BTB domain containing 9 (BTBD9)
- Target
- BTBD9
- Molecular classification
- Other (BTB/POZ domain-containing protein)
01
Overview
BTB domain containing 9 (BTBD9) is a cytosolic protein encoded by the BTBD9 gene in humans and is characterized by the presence of a BTB/POZ domain, a protein-protein interaction module found in many eukaryotic proteins[1][3]. BTBD9 is highly expressed in the brain and various tissues and is implicated in multiple cellular processes, including cytoskeleton regulation, transcriptional regulation, ion channel assembly, vesicle recycling, and ubiquitination[1][2]. Its functions appear to include regulating synaptic plasticity, dopamine levels, and iron homeostasis. Genetic variations in BTBD9 are associated with increased risk for Restless legs syndrome and possibly Tourette syndrome but it is not established as a druggable therapeutic target, and there are currently no drugs or well-documented drug mechanisms acting directly on BTBD9[1][3].
- Other names
- BTBD9KIAA1756
02
Biological functions
Protein-protein interactionRegulation of synaptic plasticityRegulation of dopamine levelsIron homeostasisTranscriptional regulationUbiquitinationcytoskeleton regulationion channel assemblyvesicle recycling
03
Disease associations
Restless legs syndromeTourette syndromeAnemia
04
Biomarkers
Single nucleotide polymorphisms in BTBD9 associated with Restless legs syndrome susceptibility
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