FIGURE

Fig. 2

ID

ZDB-FIG-211119-4

Publication

Ziegler et al., 2021 - Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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