ARNTL (Aryl Hydrocarbon Receptor Nuclear Translocator Like), also known as BMAL1, is a core circadian clock gene. This page provides information about its structure, function, and role in neurodegeneration.
ARNTL/BMAL1 is a transcription factor that forms a heterodimer with CLOCK to drive the expression of circadian rhythm genes. Dysregulation of circadian clock genes has been implicated in neurodegenerative diseases.
| ARNTL — Aryl Hydrocarbon Receptor Nuclear Translocator Like | |
|---|---|
| Gene Symbol | ARNTL |
| Full Name | ARNTL — Aryl Hydrocarbon Receptor Nuclear Translocator Like |
| Chromosome | 11p15.4 |
| NCBI Gene ID | 105 |
| OMIM | 602550 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9CZY4 |
| Associated Diseases | Alzheimer's disease, circadian rhythm disorders |
ARNTL (also known as BMAL1) is a core component of the circadian clock. It forms a heterodimer with CLOCK to drive transcription of circadian genes including PER and CRY family members. BMAL1 is essential for maintaining circadian rhythms in virtually all tissues including the brain.
ARNTL/BMAL1 dysregulation has been implicated in Alzheimer's disease pathogenesis. Altered circadian rhythms are common in AD patients, and BMAL1 expression is reduced in AD brains. Animal models show that BMAL1 deficiency leads to accelerated cognitive decline.
ARNTL is expressed in most tissues with highest expression in the suprachiasmatic nucleus (SCN), cortex, and hippocampus. Expression follows circadian patterns with peak expression during the active phase.