ZNF724P
The ZNF724P Gene: An Essential Player in Neurodevelopment and Disease
Description
The ZNF724P gene is located on chromosome 6p21.33 and encodes a zinc finger protein containing 16 C2H2-type zinc fingers, a highly conserved functional domain. It is primarily expressed in the central nervous system, particularly during embryonic and early postnatal development.
Associated Diseases
Mutations in the ZNF724P gene have been linked to several neurodevelopmental disorders, including:
- Pitt-Hopkins syndrome: A rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features.
- Microcephaly (primary microcephaly-2, MCPH2): A condition characterized by an abnormally small head circumference and delayed brain growth.
- Congenital heart defects: Some mutations in the ZNF724P gene have been associated with congenital heart abnormalities, such as atrial septal defect and pulmonary stenosis.
Did you Know ?
Approximately 1 in 150,000 individuals worldwide are affected by Pitt-Hopkins syndrome, making it a relatively rare genetic disorder. However, due to its impact on brain development and cognition, it can have significant implications for affected individuals and their families.
