Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4

References:

1.

Boyden LM et al. (2012) Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

external link
2.

Lai F et al. (2000) Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene.

external link
3.

Louis-Dit-Picard H et al. (2012) KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

external link
4.

Orphanet article

Orphanet ID 303801 external link
5.

NCBI article

NCBI 26249 external link
6.

OMIM.ORG article

Omim 605775 external link
7.

Wikipedia article

Wikipedia EN (Kelch-like_protein_3) external link
Update: Aug. 14, 2020
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