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.
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.
Gianfrancesco F et al. (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.
Wang Q et al. (2006) Characterization of Su48, a centrosome protein essential for cell division.
Orphanet ID 371324
Wikipedia EN (ZNF365)
Update: Aug. 14, 2020