Entrez 26249 | Ensembl ENSG00000146021 | |
Aliases KLHL3, PHA2D, kelch like family member 3 External IDs MGI: 2445185 HomoloGene: 79542 GeneCards: KLHL3 | ||
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.
Contents
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 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.
Clinical significance
Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.
References
Kelch-like protein 3 Wikipedia(Text) CC BY-SA