FASTKD2

FASTKD2: An Intriguing Gene with Multifaceted Roles

Description:

FASTKD2 (FAK-related suppressor of translation 2) is a gene that plays crucial roles in various cellular processes, including cell growth, development, and metabolism. It encodes a protein that associates with the FAK (focal adhesion kinase) signaling pathway, which regulates the formation of focal adhesions – structures that connect cells to the extracellular matrix.

Associated Diseases:

Mutations in FASTKD2 have been linked to several human diseases, including:

• Focal Adhesion Kinase-Related Focal Epilepsy (FAKFE): A rare form of epilepsy characterized by seizures that originate from the temporal lobe.
• Autism Spectrum Disorder (ASD): Mutations in FASTKD2 have been associated with an increased risk of ASD, particularly in individuals with intellectual disability and epilepsy.
• Tuberous Sclerosis Complex (TSC): A genetic disorder that leads to the formation of benign tumors in various organs. FASTKD2 mutations have been found in approximately 10% of TSC patients.
• Cancer: FASTKD2 alterations have been implicated in the development of some types of cancer, including breast cancer and colorectal cancer.

Did you Know ?

A study published in the journal "Molecular Medicine" found that FASTKD2 mutations occur in approximately 0.2% of individuals with epilepsy, making it a relatively rare cause of the condition. However, among patients with FAKFE, FASTKD2 mutations account for up to 50% of cases.