NPAS2
NPAS2 (Neuronal PAS Domain Protein 2) is a protein that in humans is encoded by the NPAS2 gene. It is a member of the basic helix-loop-helix-PER-ARNT-SIM (bHLH-PAS) family of transcription factors.
Function[edit | edit source]
The NPAS2 protein is a transcription factor that is highly expressed in the brain, particularly in the forebrain, a region involved in higher cognitive functions. It is thought to play a key role in maintaining the circadian rhythm, which regulates the body's internal clock.
NPAS2 forms a heterodimer with BMAL1, another circadian protein, and this complex binds to E-box elements in the promoter region of target genes to activate their transcription. The NPAS2-BMAL1 complex is negatively regulated by the proteins PER and CRY.
Clinical significance[edit | edit source]
Mutations in the NPAS2 gene have been associated with seasonal affective disorder, bipolar disorder, and major depressive disorder. In addition, some studies have suggested a link between NPAS2 and susceptibility to cancer, particularly breast cancer.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
