Species Human Entrez 55145 | Human Mouse Ensembl ENSG00000131931 | |
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Aliases THAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1 External IDs MGI: 1921004 HomoloGene: 10005 GeneCards: THAP1 | ||
THAP domain-containing protein 1 is a protein that in humans is encoded by the THAP1 gene. The synonyme is DYT6 (Dystonia 6).
Contents
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 PAWR.
Clinical significance
Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been associated with DYT6 dystonia, a hereditary movement disorder involving sustained, involuntary muscle contractions.