Disease relevance of Bglap-rs1

• 5. The protein encoded by ORG has a similar pattern of expression and identical structural features to nephrocalcin, a calcium-binding protein partially purified from kidney that plays a role in calcium reabsorption and in prevention of nephrolithiasis [1].

High impact information on Bglap-rs1

• Clones expressing recombinant proteins, which appeared to be antigenically cross-reactive to nephrocalcin, were isolated and their DNA sequences and inhibitory activities on the calcium oxalate crystal growth were determined [2].
• In the course of nephrocalcin cDNA cloning, we have identified FKBP-12 as an inhibitory molecule of calcium oxalate crystal growth. lambdagt 11 cDNA libraries were constructed from renal carcinoma tissues and screened for nephrocalcin cDNA clones using anti-nephrocalcin antibody as a probe [2].
• Three molecules found in urine, nephrocalcin, uropontin, and citrate, each inhibited binding of COM crystals, whereas Tamm-Horsfall glycoprotein (THP) did not [3].
• Nephrocalcin (NC) is a glycoprotein inhibitor of calcium oxalate monohydrate crystal growth present in urine and kidney tissue [4].

Analytical, diagnostic and therapeutic context of Bglap-rs1

• ORG mRNA has been predicted to encode nephrocalcin and shown to be expressed in the kidney where it could serve as an important crystallization inhibitor [5].
• Medium conditioned for 3 days reacted by direct enzyme-linked immunosorbent assay (ELISA) with a rabbit antiserum to human urinary NC; the same antiserum was localized to the cells using immunoperoxidase staining [4].
• Using ion exchange and molecular sieve chromatography, we purified a glycoprotein calcium oxalate crystal-growth inhibitor the chromatographic behavior and amino acid and carbohydrate compositions of which closely resembled that of purified human urinary NC [4].

References