Kelch-like protein 3 explained

Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene.[1] 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 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.[1]

Clinical significance

Pseudohypoaldosteronism Type 2D

Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia[2] and metabolic acidosis.[1]

Ischemic Stroke

A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.[3]

Further reading

Notes and References

  1. Web site: Entrez Gene: Kelch-like 3 (Drosophila) . 2012-04-26 .
  2. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. . Nature Genetics . 44 . 5 . 609 . Apr 26, 2012 . . 10.1038/ng0512-609 . free .
  3. Huang . Dian . Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods . Molecular Neurobiology . 1 November 2023 . 61 . 5 . 2530–2541 . 10.1007/s12035-023-03738-5 . 37910287 .