KLHL3

Kelch-like protein 3 is a is_associated_with::protein in humans that is encoded by the KLHL3 is_associated_with::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 is_associated_with::N-terminal BTB domain followed by a is_associated_with::BACK domain and six kelch-like repeats in the is_associated_with::C-terminus. These kelch-like repeats promote substrate is_associated_with::ubiquitination of bound proteins via interaction of the BTB domain with the is_associated_with::CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.

Clinical significance
Muatations in this gene cause is_associated_with::pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring is_associated_with::hypertension, is_associated_with::hyperkalaemia and metabolic is_associated_with::acidosis.