Primary Identifier | MGI:1096381 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 11865 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and protein heterodimerization activity. Involved in several processes, including regulation of cell development; regulation of macromolecule metabolic process; and regulation of signal transduction. Acts upstream of or within several processes, including autophagy; protein import into nucleus; and regulation of protein catabolic process. Located in chromatoid body and nuclear body. Part of CLOCK-BMAL transcription complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; hemolymphoid system; and retina. Used to study diabetes mellitus. Human ortholog(s) of this gene implicated in alcohol dependence and bipolar disorder. Orthologous to human BMAL1 (basic helix-loop-helix ARNT like 1). PHENOTYPE: Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. [provided by MGI curators] |