Primary Identifier | MGI:98970 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 22433 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; enzyme binding activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in several processes, including cellular response to hexose stimulus; intracellular signal transduction; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within cellular response to leukemia inhibitory factor; epithelial cell maturation; and exocrine pancreas development. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeletal system. Used to study inflammatory bowel disease. Orthologous to human XBP1 (X-box binding protein 1). PHENOTYPE: Homozygous mutants exhibit markedly impaired liver development resulting in severe anemia, necrosis of cardiac myocytes, morphological abnormalities of the neural tube, and fetal death around embryonic day 14. [provided by MGI curators] |