Aliases for BHLHA15 Gene
External Ids for BHLHA15 Gene
Previous HGNC Symbols for BHLHA15 Gene
Previous GeneCards Identifiers for BHLHA15 Gene
GeneCards Summary for BHLHA15 Gene
BHLHA15 (Basic Helix-Loop-Helix Family Member A15) is a Protein Coding gene. Diseases associated with BHLHA15 include Febrile Seizures, Familial, 9 and Maturity-Onset Diabetes Of The Young. Among its related pathways are Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is NEUROD2.
UniProtKB/Swiss-Prot Summary for BHLHA15 Gene
Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' (By similarity).