ZFIN Image: Ziegler et al., 2021, Fig. 2

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Figure Caption

Fig. 2 Molecular features of identified variants (A) Pedigrees of families 1–9. (B) Schematic representation of IPO8 gene (25 exons, 24 introns) and importin 8 protein (1,037 amino acids), which features the importin N-terminal domain and the CSE1-like domain, containing tandem HEAT repeats and a RanGTP-binding motif. IPO8 variants identified in this study as well as their location are shown. Protein sequence alignments of IPO8 orthologs are provided for each affected residue. (C) Importin 8 expression in fibroblasts or EBV cells derived from individuals 2, 5, 6, 8, and 9. GAPDH served as loading control.

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Am. J. Hum. Genet.