NPAS3


Description

The NPAS3 (neuronal PAS domain protein 3) is a protein-coding gene located on chromosome 14.

NPAS3, or Neuronal PAS domain protein 3, is a transcription factor found primarily in the brain. It belongs to the bHLH-PAS superfamily, known for its diverse functions in biological processes like circadian rhythms, nerve cell development, detoxification, oxygen sensing, and respiratory development. NPAS3 shares the characteristic basic helix-loop-helix and PAS domains with other members of this superfamily. It has been suggested that NPAS3's rapid evolution in humans may have contributed to our distinct traits compared to apes. Research in mice lacking NPAS1 and NPAS3 has revealed behavioral abnormalities resembling schizophrenia, including a decrease in the production of reelin, a protein also found to be reduced in the brains of individuals with schizophrenia and bipolar disorder. NPAS3 is located within a genomic region that shows significant evolutionary changes in humans. Studies have identified disruptions in NPAS3 in a family affected by schizophrenia, suggesting its involvement in psychiatric disorders and learning disabilities. A large genetic study in 2008 found that variations in NPAS3 can influence the risk of schizophrenia and bipolar disorder. Furthermore, NPAS3 variations have been linked to differences in response to iloperidone, an atypical antipsychotic medication.

NPAS3 is also known as MOP6, PASD6, bHLHe12.

Associated Diseases


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