Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. [5]
Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. [5]
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis. [5]
NPHP1 has been shown to interact with BCAR1, [6] [7] PTK2B, [7] Filamin [8] and INVS. [9]
A basal body is a protein structure found at the base of a eukaryotic undulipodium. The basal body was named by Theodor Wilhelm Engelmann in 1880. It is formed from a centriole and several additional protein structures, and is, essentially, a modified centriole. The basal body serves as a nucleation site for the growth of the axoneme microtubules. Centrioles, from which basal bodies are derived, act as anchoring sites for proteins that in turn anchor microtubules, and are known as the microtubule organizing center (MTOC). These microtubules provide structure and facilitate movement of vesicles and organelles within many eukaryotic cells.
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least 4 different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual. Importantly, if cysts are found in the medullary collecting ducts they can result in a shrunken kidney, unlike that of polycystic kidney disease. There are two known forms of medullary cystic kidney disease, mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney disease/uromodulin kidney disease (MKD2). A third form of the disease occurs due to mutations in the gene encoding renin (ADTKD-REN), and has formerly been known as familial juvenile hyperuricemic nephropathy type 2.
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.
Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease.
Protein tyrosine kinase 2 beta is an enzyme that in humans is encoded by the PTK2B gene.
Podocin is a protein that in humans is encoded by the NPHS2 gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Inversin is a protein that in humans is encoded by the INVS gene.
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
MAL-like protein is a protein that in humans is encoded by the MALL gene.
IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.
Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.
Tensin-1 is a protein that in humans is encoded by the TNS1 gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
Renal–hepatic–pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. An association with NPHP3 has been described. It was characterized in 1959.
RPGRIP1L is a human gene.
GLIS family zinc finger 2 also known as GLIS2 is a human gene.
Xaa-Pro aminopeptidase 3, also known as aminopeptidase P3, is an enzyme that in humans is encoded by the XPNPEP3 gene. XPNPEP3 localizes to mitochondria in renal cells and to kidney tubules in a cell type-specific pattern. Mutations in XPNPEP3 gene have been identified as a cause of a nephronophthisis-like disease.
Serine/threonine-protein kinase Nek8, also known as never in mitosis A-related kinase 8, is an enzyme that in humans is encoded by the NEK8 gene.
Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.
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