Primary Identifier | MGI:1891158 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 83993 |
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 positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including cell fate commitment; pituitary gland development; and regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be active in nucleus. Is expressed in central nervous system; early conceptus; future adenohypophysis; and genitourinary system. Used to study adrenocorticotropic hormone deficiency. Human ortholog(s) of this gene implicated in adrenocorticotropic hormone deficiency; alcohol dependence; and inherited metabolic disorder. Orthologous to human TBX19 (T-box transcription factor 19). PHENOTYPE: The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis. [provided by MGI curators] |