Primary Identifier | MGI:97324 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 18072 |
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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within with a positive effect on apoptotic process; hypothalamus gonadotrophin-releasing hormone neuron development; and peripheral nervous system development. Acts upstream of or within several processes, including cell migration in hindbrain; male gonad development; and male mating behavior. Located in chromatin. Is expressed in several structures, including central nervous system; embryo ectoderm; genitourinary system; head mesenchyme derived from neural crest; and sensory organ. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism. Orthologous to human NHLH2 (nescient helix-loop-helix 2). PHENOTYPE: Loss of function results in adult-onset obesity and reproductive defects, including hypogonadism, due to disruption of the hypothalamic-pituitary axis. Mutant male mice are sterile, whereas female mice show variable fertility dependent on the presence orabsence of male mice. [provided by MGI curators] |