Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia
Deletion of exon 9 from Cullin-3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin-RING-ubiquitin-ligase complexes. Bo...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
John Wiley & Sons, Ltd
2015
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604684/ |