DISEASES

Disease-gene associations mined from literature

Literature associating BHLHE41 and aromatic L-amino acid decarboxylase deficiency

BHLHE41 [ENSP00000242728]

Differentially expressed in chondrocytes protein 2; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity; Basic helix-loop-helix proteins

Synonyms:  BHLHE41,  BHLHE41p,  hBHLHE41,  A0A024RAV8,  BHLHB3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM