BHLHE41 Chromosome 12
Basic helix-loop-helix family member e41
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What This Gene Does
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000123095
Associated Conditions (3)
Short sleep
familial natural
1
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912617 | Trait | Affects | Short sleep, familial natural, 1 |
| RS1591838266 | Trait | Affects | Short sleep, familial natural, 1 |