- Source: Kelch-like protein 3
3/info/kelch" target="_blank">Kelch-3/info/like" target="_blank">like 3/info/protein" target="_blank">protein 3 is a 3/info/protein" target="_blank">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 3/info/protein" target="_blank">protein which has an N-terminal BTB domain followed by a BACK domain and six 3/info/kelch" target="_blank">kelch-3/info/like" target="_blank">like repeats in the C-terminus. These 3/info/kelch" target="_blank">kelch-3/info/like" target="_blank">like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.
Clinical significance
= Pseudohypoaldosteronism Type 2D
=Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.
= Ischemic Stroke
=A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.