ZNF645
The ZNF645 Gene: Unraveling Its Role in Health and Disease
Description
The ZNF645 gene, located on chromosome 19q13.33, encodes a zinc finger protein known as zinc finger protein 645. This protein plays a crucial role in transcriptional regulation, acting as an essential component of the nucleosome remodeling and deacetylation complex (NuRD). The NuRD complex is responsible for modifying chromatin structure, making DNA accessible for gene expression or repression.
Associated Diseases
Mutations in the ZNF645 gene have been linked to several genetic disorders, including:
- CHARGE syndrome: A rare genetic condition characterized by multiple birth defects, including heart defects, facial features, and developmental delays. ZNF645 mutations are responsible for approximately 20% of CHARGE cases.
- Other developmental anomalies: ZNF645 mutations have also been associated with isolated conditions such as cleft lip and palate, microcephaly, and hearing loss.
Did you Know ?
- CHARGE syndrome occurs in approximately 1 in 10,000 live births, making it a relatively rare condition.
