SZT2

SZT2 is a gene that in humans is encoded by the SZT2 protein. This gene is located on chromosome 1, specifically at 1q24.2. The SZT2 gene is involved in the regulation of mTORC1 signaling, a pathway that controls cell growth and metabolism in response to nutrients, growth factors, and cellular energy.

Function

The protein encoded by the SZT2 gene is a component of the KICSTOR complex, which positively regulates the mTORC1 pathway. This pathway is crucial for the regulation of cell growth and metabolism. The SZT2 protein is thought to play a role in the cellular response to nutrient availability, as well as in the regulation of autophagy, a process that cells use to break down and recycle cellular components.

Clinical significance

Mutations in the SZT2 gene have been associated with a number of medical conditions. These include epilepsy, developmental delay, and microcephaly, a condition characterized by a smaller than normal head size. In addition, mutations in this gene have been linked to a rare genetic disorder known as SZT2-related disorder, which is characterized by seizures, developmental delay, and other neurological abnormalities.

Research

Research into the SZT2 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene lead to the various medical conditions associated with it. This research could potentially lead to new treatments for these conditions.

See also

• mTORC1 pathway
• KICSTOR complex
• Autophagy
• Epilepsy
• Microcephaly

References

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