User:Queenbeeappletree/BTBD9

BTBD9 Gene
BTBD9 is a human gene.

BTBD9 encodes a protein that is in a subgroup of BTB(POZ) proteins, which contribute to the forming of limbs and determination of cell fate in developing Drosophila melanogaster. BTB(POZ) proteins also play a role in cellular functions such as: cytoskeleton regulation, transcription regulation, the gating and assembly of ion channels, and ubiquitination of proteins. BTBD9 is highly expressed throughout the brain and shows variable levels of expression in most other body tissues.

The gene is located on the short arm of chromosome 6. This domain is understood to contain genes encoding protein-protein interactions. Alternatively spliced transcripts have also been expressed with this gene.

Clinical Relevance
There is some evidence that BTBD9 may be associated with Restless legs syndrome. Mutations to BTBD9 are positively correlated with characteristic symptoms of Restless leg syndrome such as decreased dopamine levels, increased movement, and disrupted sleep patterns. The overrepresentation of single nucleotide polymorphisms expressed in BTBD9 may be associated with Restless legs syndrome and nighttime leg movements. Some genetic variants in BTBD9 that have been linked to Restless leg syndrome are also correlated with Tourette’s Syndrome that doesn’t present with Obsessive Compulsive Disorder. The same single nucleotide polymorphisms that may be expressed in Restless Legs Syndrome may also be correlated with Tourette's syndrome. One scientific review regarding Restless Legs Syndrome expressed that Restless Legs Syndrome is a complex syndrome that has many risk factor indicators including the presence of the BTBD9 gene.

The BTBD9 gene is also found to be associated with iron levels in human cell lines. One scientific review discussed how the iron level association found in human cell lines was also present in animal phenotypes. These model organisms could have normal iron levels present throughout the body even when the dopamine neural pathways had below normal iron levels within the brain due to the BTBD9 presence.