BTBD9

BTB (POZ) domain containing 9
Identifiers
Symbol	BTBD9
NCBI gene	114781
HGNC	21228
OMIM	611237
RefSeq	NM_152733
Other data
Locus	Chr. 6 p21

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.

Research Models

There are extensive homologs to BTBD9 which allow for the use of animal models in deciphering its functions and interactions. The BTBD9 homolog Btbd9 is extensively expressed in the central nervous system of adult mice including the thalamus, sub-thalamic nuclei, cerebral cortex, cerebellum, hippocampus, and caudate nucleus. The Drosophila homolog dBTBD9, was shown to regulate dopamine levels in the Drosophila brain and iron regulation in human cell-lines.

Synaptic Plasticity

A recent study using Btbd9 knockout mice argued that BTBD9 is involved in synaptic plasticity, learning and memory, and protein alterations associated with vesicle recycling and endocytosis.

Clinical Relevance

There is some evidence that BTBD9 may be associated with Restless legs syndrome. And mutations to BTBD9 are positively correlated with characteristic symptoms of Restless leg syndrome such as decreased dopamine levels, increased movement, and disrupted sleep patterns. 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.