ZNF718
ZNF718 Gene: An Intriguing Player in Human Health
The ZNF718 gene, located on chromosome 19, is a fascinating subject of scientific inquiry due to its potential implications for human health. This article delves into the description, associated diseases, interesting statistics, latest research, and additional information about this remarkable gene.
Description
ZNF718 is a zinc finger protein-encoding gene. Zinc finger proteins are essential for regulating gene expression and playing crucial roles in cellular processes such as embryonic development, cell differentiation, and immune response. The ZNF718 protein is specifically involved in transcriptional activation, contributing to the expression of specific genes.
Associated Diseases
Mutations in the ZNF718 gene have been linked to several human diseases, including:
- Intellectual disability: ZNF718 mutations can cause intellectual disability, ranging from mild to severe. Affected individuals may exhibit cognitive impairments, developmental delays, and behavioral problems.
- Autism spectrum disorder (ASD): ZNF718 has been identified as a candidate gene for ASD, with multiple studies suggesting its involvement in the disorder‘s neurodevelopmental basis.
- Schizophrenia: Some studies have discovered ZNF718 variants associated with an increased risk of schizophrenia. The exact mechanism through which these mutations contribute to the disease is still under investigation.
- Other conditions: ZNF178 mutations have also been linked to growth retardation, epilepsy, and speech impairments in rare cases.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to carry a mutation in the ZNF718 gene. This prevalence highlights the potential significance of this gene for human health.
Latest Research
Ongoing research continues to unravel the role of ZNF718 in various biological processes. Recent studies have focused on:
- The precise mechanisms underlying ZNF718‘s involvement in neurodevelopmental disorders
- Developing therapies targeting ZNF718 to mitigate its effects on intellectual disability and ASD
- Investigating the potential role of ZNF718 in other diseases, such as cancer and autoimmune disorders
