BTBD1
Description
The BTBD1 (BTB domain containing 1) is a protein-coding gene located on chromosome 15.
BTBD1, encoded by the BTBD1 gene, is a protein that binds topoisomerase I (TOP1) at its C-terminus. The N-terminus contains a proline-rich region and a BTB/POZ domain, both commonly involved in protein interactions. BTBD1 localizes to cytoplasmic bodies and exists in various isoforms due to alternative splicing. It has been demonstrated to interact with TOP1.
BTBD1 is also known as C15orf1, NS5ATP8.
Associated Diseases
- bipolar disorder
- familial juvenile hyperuricemic nephropathy type 2
- nephrotic syndrome, type 22
- congenital anomalies of kidney and urinary tract 1
- congenital hydronephrosis
- renal hypoplasia
- focal segmental glomerulosclerosis 7
