ZBTB14
Description
The ZBTB14 (zinc finger and BTB domain containing 14) is a protein-coding gene located on chromosome 18.
ZBTB14 functions as a transcriptional activator of the dopamine transporter (DAT) gene by binding to its promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA-3'. It also acts as a repressor of the FMR1 gene by binding to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and functions as a transcriptional repressor of MYC and thymidine kinase promoters.
ZBTB14 is also known as ZF5, ZFP-161, ZFP-5, ZFP161, ZNF478.
Associated Diseases
- type 2 diabetes mellitus
- genito-palato-cardiac syndrome
- fallot complex-intellectual disability-growth delay syndrome
- congenital heart defects, multiple types, 6
- ventricular septal defect 1
- congenital heart defects, multiple types, 5
- 22q11.2 deletion syndrome
- cardiac valvular defect, developmental
- tricuspid atresia
- nephronophthisis 16
