THAP domain containing apoptosis associated protein 1
THAP domain containing protein 1
THAP domain protein 1
THAP domain-containing protein 1
DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.
Involvement in disease
Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:602629]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
Belongs to the THAP1 family. Contains 1 THAP-type zinc finger.