| UniProt Protein Function: | BTBD9: Genetic variations in BTBD9 may be associated with susceptibility to restless legs syndrome type 6 (RLS6); 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. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Unknown function Chromosomal Location of Human Ortholog: 6p21 Biological Process: circadian sleep/wake cycle, non-REM sleep; long-term memory; adult locomotory behavior; sensory perception of temperature stimulus; serotonin metabolic process Disease: Restless Legs Syndrome, Susceptibility To, 6 |
| NCBI Summary: | 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] |
| UniProt Code: | Q96Q07 |
| NCBI GenInfo Identifier: | 151108413 |
| NCBI Gene ID: | 114781 |
| NCBI Accession: | NP_001092742.1 |
| UniProt Secondary Accession: | Q96Q07,Q494V9, Q494W1, Q96M00, |
| UniProt Related Accession: | Q96Q07 |
| Molecular Weight: | 69188 |
| NCBI Full Name: | BTB/POZ domain-containing protein 9 isoform a |
| NCBI Synonym Full Names: | BTB (POZ) domain containing 9 |
| NCBI Official Symbol: | BTBD9 |
| NCBI Official Synonym Symbols: | dJ322I12.1 |
| NCBI Protein Information: | BTB/POZ domain-containing protein 9 |
| UniProt Protein Name: | BTB/POZ domain-containing protein 9 |
| Protein Family: | BTB/POZ domain-containing protein |
| UniProt Gene Name: | BTBD9 |
| UniProt Entry Name: | BTBD9_HUMAN |
