This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Function:
Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.
Subcellular Location:
Cytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > centrosome.
Tissue Specificity:
Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
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.
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.
SWISS:
O75161
Gene ID:
261734
Database links:
Entrez Gene: 261734 Human
Omim: 607215 Human
SwissProt: O75161 Human
Unigene: 462348 Human
|
|
