disease:Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4) [MIM:606966]; also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.,disease:Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.,similarity:Belongs to the NPHP4 family.,subunit:Interacts with NPHP1 and RPGRIP1L.,tissue specificity:Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.,
Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cell junction, tight junction . Nucleus . In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity). Localizes to the ciliary transition zone (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). .
Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
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