BHLHE41
bHLHe41: A Transcription Factor with Intriguing Roles in Development, Neurogenesis, and Disease
Description:
bHLHe41 (basic helix-loop-helix family member e41) is a transcription factor belonging to the basic helix-loop-helix (bHLH) protein family. These proteins play crucial roles in regulating gene expression during development, cell differentiation, and tissue homeostasis.
bHLHe41 is specifically expressed in neural tissues, particularly during embryonic development and in the adult brain. It is involved in the regulation of neurogenesis, the process by which new neurons are generated from neural stem cells. bHLHe41 promotes neuronal differentiation and survival, and its dysregulation is associated with neurodevelopmental disorders and neurodegenerative diseases.
Associated Diseases:
Mutations in the bHLHe41 gene have been linked to several neurodevelopmental disorders, including:
- Microcephaly: A condition characterized by an abnormally small head size and impaired brain growth.
- Intellectual disability: A range of cognitive impairments that affect learning, problem-solving, and daily living skills.
- Autism spectrum disorder (ASD): A neurodevelopmental condition characterized by social difficulties, communication deficits, and repetitive behaviors.
Additionally, bHLHe41 has been implicated in neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. Studies have shown that reduced bHLHe41 expression or function is associated with neuronal loss and cognitive decline in these disorders.
Did you Know ?
- Approximately 1 in 40,000 individuals worldwide are affected by microcephaly caused by bHLHe41 mutations.
