Kelch-like protein 3
Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.Function
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 component of a cullin-RING E3 ubiquitin ligase complex.Mutations in this gene cause pseudohypoaldosteronism type IID ; a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.
