THAP1

THAP domain-containing protein 1 is a is_associated_with::protein that in humans is encoded by the THAP1 is_associated_with::gene. The synonyme is DYT6 (is_associated_with::Dystonia 6).

Function
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Interactions
THAP1 has been shown to interact with is_associated_with::PAWR.

Clinical significance
Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been associated with DYT6 is_associated_with::dystonia, a hereditary movement disorder involving sustained, involuntary muscle contractions.