Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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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| 4. |
Orphanet article Orphanet ID 303801
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| 5. |
NCBI article NCBI 26249
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| 6. |
OMIM.ORG article Omim 605775
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| 7. |
Wikipedia article Wikipedia EN (Kelch-like_protein_3)
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