Primary Identifier | MGI:101838 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 21374 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within transcription by RNA polymerase II and transcription by RNA polymerase III. Located in cytoplasm and nucleus. Part of RNA polymerase transcription factor SL1 complex and transcription factor TFIID complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and retina. Used to study spinocerebellar ataxia type 17. Human ortholog(s) of this gene implicated in late onset Parkinson's disease; schizophrenia; spinocerebellar ataxia type 17; and type 1 diabetes mellitus. Orthologous to human TBP (TATA-box binding protein). PHENOTYPE: Mice homozygous for one null allele exhibit embryonic lethality caused by hemorrhaging and clotting in the placenta and surviving embryos die prior to weaning. Mice homozygous for another null allele undergo growth arrest after hatching and apoptosis. [provided by MGI curators] |