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Proteintech
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Immunogen sequence: MDEGIPHLQ ERQLLEHRDF IGLDYSSLYM CKPKRSMKRD DTKDTYKLPH RLIEKKRRDR INECIAQLKD LLPEHLKLTT LGHLEKAVVL ELTLKHLKAL TALTEQQHQK IIALQNGERS LKSPIQSDLD AFHSGFQTCA KEVLQYLSRF ESWTPREPRC VQLINHLHAV ATQFLPTPQL LTQQVPLSKG TGAPSAAGSA AAPCLERAGQ KLEPLAYCVP VIQRTQPSAE LAAENDTDTD SGYGGEAEAR PDREKGKGAG ASRVTIKQEP PGEDSPAPKR MKLDSRGGGS GGGPGGGAVA AAAALLGPDP AAAAALLRPD AALLSSLVAF GGGGGAPFPQ PAAAAAPFCL PFC (1-352 aa encoded by BC025968)
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.
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