FLJ26850
Description
Flj26850, also known as RNF213, is a protein that plays a critical role in various cellular processes, including cell division, DNA repair, and stress response. It is located on chromosome 17 in humans and is involved in regulating gene expression and mediating interactions between DNA and chromatin.
Associated Diseases
Mutations in the flj26850 gene have been linked to several genetic disorders, including:
- Coffin-Siris syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and developmental delays.
- Nicolaides-Baraitser syndrome: A rare genetic disorder similar to Coffin-Siris syndrome, but with additional symptoms such as seizures and microcephaly (small head size).
- Intellectual disability, global developmental delay, and dysmorphic facial features: Individuals with mutations in flj26850 may exhibit intellectual disability, developmental delays, and distinctive facial features, even if they do not meet the full diagnostic criteria for Coffin-Siris or Nicolaides-Baraitser syndrome.
Did you Know ?
Approximately 1 in 50,000 individuals is affected by Coffin-Siris syndrome, making it a relatively rare genetic disorder. However, it is important to note that mutations in flj26850 can also cause other related disorders, which may increase the overall prevalence of flj26850-related conditions.
