Primary Identifier | MGI:103079 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 19290 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; nucleic acid binding activity; and transcription regulator inhibitor activity. Involved in dendritic transport of messenger ribonucleoprotein complex; negative regulation of DNA-binding transcription factor activity; and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including epithelial cell proliferation; lymphocyte proliferation; and negative regulation of DNA-templated transcription. Located in cytoplasm; dendrite; and neuronal cell body. Is active in glutamatergic synapse; nucleus; and postsynapse. Is expressed in several structures, including alimentary system; eye; genitourinary system; heart; and nervous system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 31. Orthologous to human PURA (purine rich element binding protein A). PHENOTYPE: Homozygous null mice are overtly normal within the first few weeks of life but later manifest severe neurological defects and die shortly after weaning. Neuroanatomical abnormalities are also observed. [provided by MGI curators] |