Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein ZNF365

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.

Genetests:

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

Related Diseases:

Susceptibility to nephrolithiasis
ALPL
CASR
SLC26A1
TRPV5
ZNF365

References:

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 [^]
5.

NCBI article

NCBI 22891 [^]
6.

OMIM.ORG article

Omim 607818 [^]
7.

Wikipedia article

Wikipedia EN (ZNF365) [^]
Update: April 29, 2019