Primary Identifier | MGI:106220 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20475 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of DNA-templated transcription; negative regulation of skeletal muscle satellite cell proliferation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within lens development in camera-type eye; negative regulation of cell population proliferation; and spermatid development. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and integumental system. Human ortholog(s) of this gene implicated in branchiootorenal syndrome 2. Orthologous to human SIX5 (SIX homeobox 5). PHENOTYPE: Homozygous null mutants exhibit a high incidence of progressive cataracts with background-dependent penetrance. Heterozygotes exhibit a similar phenotype, but with reduced incidence and severity. [provided by MGI curators] |