| Primary Identifier | MGI:97488 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 18506 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in intestinal enterochromaffin enteroendocrine cell differentiation and type B pancreatic cell differentiation. Acts upstream of or within negative regulation of transcription by RNA polymerase II and positive regulation of cell differentiation. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in central nervous system; dorsal root ganglion; gut; and urinary system. Human ortholog(s) of this gene implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human PAX4 (paired box 4). PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
