Primary Identifier | MGI:1921004 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 73754 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; protein homodimerization activity; and zinc ion binding activity. Predicted to be involved in several processes, including DNA-templated transcription; endothelial cell proliferation; and negative regulation of transcription by RNA polymerase II. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be active in nucleus. Is expressed in central nervous system; forelimb bud; and genitourinary system. Used to study torsion dystonia 6. Human ortholog(s) of this gene implicated in torsion dystonia 6. Orthologous to human THAP1 (THAP domain containing 1). PHENOTYPE: Homozygous knockout mice are embryonic lethal. Heterozygous mice show aberrations in motor control and the morphology of the cerebellum dentate nucleus. [provided by MGI curators] |