Primary Identifier | MGI:1316736 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 17283 |
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; chromatin binding activity; and transcription cis-regulatory region binding activity. Involved in transcription initiation-coupled chromatin remodeling. Acts upstream of or within several processes, including negative regulation of cell population proliferation; regulation of macromolecule metabolic process; and regulation of osteoblast differentiation. Located in chromosome, telomeric region; cytoplasm; and nucleus. Is expressed in several structures, including 1st branchial arch; alimentary system; central nervous system; gonad; and sensory organ. Used to study growth hormone secreting pituitary adenoma; hyperparathyroidism; multiple endocrine neoplasia type 1; and prolactinoma. Human ortholog(s) of this gene implicated in endocrine gland cancer (multiple); hyperparathyroidism; and multiple endocrine neoplasia type 1. Orthologous to human MEN1 (menin 1). PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 11.5-13.5 with reduced size, edema, open neural tube and defects of the nervous system, heart and liver. Heterozygotes develop tumors of the pancreas, parathyroid, thyroid, adrenal and pituitary. [provided by MGI curators] |