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The BHLHE41 gene encodes a basic helix-loop-helix (bHLH) transcription factor located at the 12p12.1 susceptibility locus. It functions primarily as a nuclear transcriptional repressor, homodimerizing or heterodimerizing with various partners to regulate gene expression. BHLHE41 expression is highly tissue-specific and responsive to environmental cues. Genetic studies have highlighted its role in increasing xenograft tumor growth and its involvement in short sleep phenotypes. A notable mutation in BHLHE41 leads to a phenotype requiring only six hours of sleep, demonstrating its influence on sleep patterns. Moreover, BHLHE41 has been associated with osteoclast differentiation processes, indicating its involvement in cellular development. Its interaction with TFEB target genes suggests a protective role against certain types of cell death, emphasizing its complex role in cellular physiology.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 2-Dec; basic helix-loop-helix domain containing, class B, 3; basic helix-loop-helix domain containing, class B3; basic helix-loop-helix family, member e41; bHLH transcriptional factor Dec2; bHLHb3; bHLHe41; Class B basic helix-loop-helix protein 3; Class E basic helix-loop-helix protein 41; Differentially expressed in chondrocytes protein 2; Enhancer-of-split and hairy-related protein 1; hDEC2; mDEC2; SHARP-1
Gene Aliases: 6430520M22Rik; Bhlhb2l; BHLHB3; BHLHE41; DEC2; hDEC2; SHARP1
UniProt ID: (Human) Q9C0J9, (Mouse) Q99PV5
Entrez Gene ID: (Human) 79365, (Mouse) 79362
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