Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and pre-mRNA intronic binding activity. Involved in positive regulation of protein import into nucleus; regulation of circadian rhythm; and regulation of protein stability. Acts upstream of or within RNA splicing. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; genitourinary system; and heart. Used to study Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; amyotrophic lateral sclerosis type 10; and frontotemporal dementia. Human ortholog(s) of this gene implicated in Parkinson's disease; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 10; and motor neuron disease. Orthologous to human TARDBP (TAR DNA binding protein).
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