TXNDC2
TXNDC2
TXNDC2 is a gene that encodes a protein belonging to the thioredoxin superfamily. This gene is located on chromosome 20 in humans. The protein encoded by TXNDC2 is involved in redox regulation and plays a crucial role in maintaining cellular redox homeostasis.
Function[edit | edit source]
TXNDC2 functions as a disulfide isomerase, facilitating the formation and rearrangement of disulfide bonds in proteins. This activity is essential for proper protein folding and stability. Additionally, TXNDC2 is involved in the regulation of cellular responses to oxidative stress.
Structure[edit | edit source]
The protein encoded by TXNDC2 contains thioredoxin domains, which are characteristic of proteins with redox activity. These domains enable TXNDC2 to catalyze disulfide bond formation and reduction.
Clinical Significance[edit | edit source]
Mutations in the TXNDC2 gene have been associated with certain diseases, including neurodegenerative disorders and cancer. Dysregulation of redox homeostasis mediated by TXNDC2 can lead to cellular damage and contribute to disease pathogenesis.
Interactions[edit | edit source]
TXNDC2 interacts with various proteins involved in redox signaling pathways and protein folding. These interactions are crucial for maintaining cellular function and responding to environmental stressors.
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD