YJEFN3
YJEFN3 Gene: Unraveling its Impact on Human Health
Description
The YJEFN3 gene, located on chromosome 17q25.3, encodes a protein known as YjeF N-terminal domain-containing protein 3. This protein plays a crucial role in various cellular processes, including DNA replication, cell cycle regulation, and apoptosis.
Associated Diseases
Mutations in the YJEFN3 gene have been linked to several human diseases:
- Cohen syndrome: A rare genetic disorder characterized by intellectual disability, microcephaly, and distinctive facial features.
- Seckel syndrome: A rare genetic disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, and facial anomalies.
- Microcephalic primordial dwarfism: A rare genetic disorder characterized by severe microcephaly and growth retardation.
- Pontocerebellar hypoplasia: A severe neurological disorder characterized by underdevelopment of the cerebellum and brainstem.
Did you Know ?
According to the National Organization for Rare Disorders, Cohen syndrome affects approximately 1 in 200,000 newborns.
