DISEASES

Disease-gene associations mined from literature

Literature associating BHLHA15 and maturity-onset diabetes of the young

BHLHA15 [ENSP00000476312]

Class A basic helix-loop-helix protein 15; 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).

Synonyms:  BHLHA15,  BHLHA15p,  hBHLHA15,  Q7RTS1,  Q7RTS1p ...

Linkouts:  STRING  Pharos  UniProt