Home > E. Pathology by systems > Urinary system > Kidneys > MCKD2
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