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. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054

Figure 8. Our model for disease-causing SEL1L-HRD1 hypomorphic variants in ENDI.

Figure 8

Human ENDI variants identified in patients through WES are hypomorphic and cause a partial loss of function of SEL1L-HRD1 ERAD via distinct mechanisms such as SEL1L protein and ERAD complex stability (SEL1LM528R), substrate recruitment (SEL1LG585D), and HRD1 activity (HRD1P398L).