Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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2.

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

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3.

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

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Update: Sept. 26, 2018