Kelch-like protein 3
The protein encoded by this gene is involved in ubiquitination of bound proteins via interaction with the CUL3. As mutations of the CUL3 gene, mutations of the KLHL3 gene cause autosomal dominant or recessive pseudohypoaldosteronism type 2.
Genetests:
Related Diseases:
References:
1. |
Boyden LM et al. (2012) Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
|
2. |
Lai F et al. (2000) Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene.
|
3. |
Louis-Dit-Picard H et al. (2012) KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
|
4. |
Orphanet article
Orphanet ID 303801
|
5. |
NCBI article
NCBI 26249
|
6. |
OMIM.ORG article
Omim 605775
|
7. |
Wikipedia article
Wikipedia EN (Kelch-like_protein_3)
|
Update: Aug. 14, 2020