BTBD9
Description
The BTBD9 (BTB domain containing 9) is a protein-coding gene located on chromosome 6.
BTBD9 is a member of the BTB/POZ protein family, which are involved in a variety of cellular processes. These proteins contribute to limb formation and cell fate determination in developing Drosophila melanogaster. They also play roles in cytoskeleton regulation, transcription regulation, ion channel gating and assembly, and protein ubiquitination. BTBD9 is highly expressed throughout the brain and shows variable levels of expression in most other body tissues. It is located in the cellular cytosol and is expressed in human embryonic kidney cell lineages. There is evidence suggesting that BTBD9 is highly expressed within the human nervous system. Animal models with homologs of BTBD9 are being used to study its functions and interactions. 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.
BTBD9 is also known as dJ322I12.1.
Associated Diseases
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- glycogen storage disease VI
- homozygous familial hypercholesterolemia
- diabetes mellitus, permanent neonatal 4
- sitosterolemia
- thyroid hormone metabolism, abnormal, 2
- diabetes mellitus, transient neonatal, 3
- coronary artery disease, autosomal dominant 2
