TLK2
Unveiling the TLK2 Gene: A Gateway to Understanding Complex Diseases
Description
The TLK2 gene (Tousled-like kinase 2) encodes a protein kinase that plays a crucial role in regulating cellular growth, differentiation, and stress responses. Located on chromosome 17q25.3, this gene provides instructions for the production of the TLK2 protein, which is primarily found in the nucleus of cells.
Associated Diseases
Mutations and alterations in the TLK2 gene have been linked to a spectrum of human diseases, including:
- Seckel Syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly, and facial abnormalities. Mutations in TLK2 are responsible for approximately 15% of Seckel Syndrome cases.
- Microcephaly (Primary Autosomal Recessive): A congenital condition marked by an abnormally small head size and impaired brain development. TLK2 mutations are identified in a significant proportion of individuals with this condition.
- Microcephaly, Intellectual Disability, and Seizures (MIDAS): A neurodevelopmental disorder characterized by intellectual disability, microcephaly, and seizures. Mutations in TLK2 are associated with this disorder in approximately 20% of cases.
- Other developmental disorders: TLK2 mutations have also been implicated in various other developmental disorders, including growth hormone deficiency, limb malformations, and cardiac abnormalities.
Did you Know ?
A recent study estimated that approximately 1 in 100,000 newborns worldwide is affected by a disease associated with TLK2 mutations. This highlights the significant impact of this gene on human health.
