The FANK1 protein is characterized by the presence of two distinct domains:
FANK1 is involved in the regulation of apoptotic processes and transcription. It has been shown to activate JUN and AP-1-mediated transcription, which are pathways crucial for cell survival and apoptosis . The protein is located in the cytosol and nucleoplasm, and it colocalizes with chromatin, indicating its role in gene regulation .
The FANK1 gene is located on chromosome 10 and is a protein-coding gene. It has several aliases, including HSD13 and Fibronectin Type 3 And Ankyrin Repeat Domains Protein 1 . The gene is expressed in various tissues, with significant expression in the testis, suggesting a role in reproductive biology .
Mutations or dysregulation of the FANK1 gene have been associated with certain diseases. For instance, it has been linked to proximal symphalangism and uterus interstitial leiomyoma . These associations highlight the importance of FANK1 in normal cellular function and its potential role in disease pathology.
Research on FANK1 is ongoing, with studies focusing on its role in apoptosis and gene regulation. The recombinant form of this protein is used in various experimental setups to understand its function and potential therapeutic applications. The ability to produce human recombinant FANK1 allows for detailed studies on its structure and function, providing insights into its role in health and disease.