ZNF812
Understanding the znf812 Gene: A Comprehensive Guide
Description
The znf812 gene (zinc finger protein 812) is located on chromosome 2q22 and encodes a protein that plays a crucial role in regulating gene expression. It belongs to the Krüppel-like zinc finger protein family, characterized by its multiple zinc finger motifs that bind to specific DNA sequences. The znf812 protein is known for its involvement in transcriptional regulation, where it acts as a transcriptional repressor or activator depending on the cellular context.
Associated Diseases
Mutations in the znf812 gene have been linked to several human diseases, including:
- Joubert syndrome: A genetic disorder characterized by brain and eye malformations, developmental delays, and respiratory problems.
- Microcephaly: A condition characterized by an abnormally small head circumference, often associated with impaired brain development.
- Lissencephaly: A severe brain malformation where the brain surface lacks the normal folds and grooves.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by difficulties in social communication and interaction.
- Schizophrenia: A mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in every 100,000 newborns is affected by Joubert syndrome, highlighting the rarity of this condition. However, mutations in the znf812 gene can account for up to 25% of all known cases of Joubert syndrome.
