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. Author manuscript; available in PMC: 2009 Nov 17.
Published in final edited form as: N Engl J Med. 2009 Feb 25;360(12):1200–1210. doi: 10.1056/NEJMoa0806228

Figure 2. Distribution of NR5A1 Mutations in Relation to the Protein.

Figure 2

The functional domains of the NR5A1 protein are shown, indicating the position of known NR5A1 mutations, including the six mutations described in this study. Representative chromatograms are shown with each mutation. The DNA-binding domain (DBD) containing two zinc-finger motifs is indicated. The FtzF1 box stabilizes protein binding to DNA. The hinge region is important for stabilizing the ligand-binding domain and interacts with other proteins that control NR5A1 transcriptional activity. The AF2 domain recruits cofactors necessary for NR5A1 transactivating activity.