BHLHA15
Description
The BHLHA15 (basic helix-loop-helix family member a15) is a protein-coding gene located on chromosome 7.
BHLHA15 acts as a critical regulator of gene expression during development and in mature tissues. It directly controls the activity of MYOD1, a key muscle-specific transcription factor, ensuring that muscle precursor cells (myoblasts) maintain their undifferentiated state. This repression likely happens through the binding of BHLHA15 homodimers to specific DNA sequences called E-boxes in muscle cells. Additionally, BHLHA15 can suppress the activity of other genes regulated by bHLH transcription factors through a specific region at its N-terminus. Beyond its role in muscle development, BHLHA15 is essential for the normal function, stability, and identity of acinar cells, which are specialized cells found in exocrine glands. BHLHA15 also plays a vital role in the proper organization of cellular organelles within exocrine cells and regulates calcium transport in mitochondria. Notably, BHLHA15 might act as a unique regulator of gene expression in various cell types throughout embryonic development and adulthood.
BHLHA15 is also known as BHLHB8, MIST1.
Associated Diseases
- type 2 diabetes mellitus
- cancer
- annular pancreas
- hereditary chronic pancreatitis
- pancreatic agenesis 2
- bronchiectasis with or without elevated sweat chloride 1
- pancreatic agenesis 1
- gastric adenocarcinoma and proximal polyposis of the stomach
- hyperplastic polyposis syndrome
- pancreatic colipase deficiency
