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MCKD2

MIM.603860 16p13-p12

Saturday 21 January 2006

Etiology

- MCKD2 is caused by mutation in the UMOD gene at 16p13.11-p12.3 encoding uromodulin (MIM.191845)
- MCKD2 is allelic to familial juvenile hyperuricemic nephropathy (MIM.162000)
- expression of uromodulin (UMOD) has so far not been seen in cilia, basal bodies or centrosomes