Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ZNF365 gene encodes a centrosomal protein which plays a role in mitosis. The polymorphism p.Ala62Thr (7076156) causes a conformational change which seems to lead to an increase susceptibility to uric acid kidney stones. This propensity is allele dosage dependent.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. 
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| 2. |
Gianfrancesco F et al. (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.
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| 3. |
Wang Q et al. (2006) Characterization of Su48, a centrosome protein essential for cell division.
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| 4. |
Orphanet article Orphanet ID 371324
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| 5. |
NCBI article NCBI 22891
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| 6. |
OMIM.ORG article Omim 607818
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| 7. |
Wikipedia article Wikipedia EN (ZNF365)
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