Primary Identifier | MGI:2140230 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 100072 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within neuromuscular process controlling balance. Predicted to be located in cytosol and nucleolus. Predicted to be active in nucleus. Is expressed in central nervous system; early conceptus; ovary; and retina. Human ortholog(s) of this gene implicated in nonprogressive cerebellar ataxia with mental retardation. Orthologous to human CAMTA1 (calmodulin binding transcription activator 1). PHENOTYPE: Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy. [provided by MGI curators] |