Nephrin
Encyclopedia
Nephrin is a protein
necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm
.
A defect in the gene for nephrin is associated with congenital nephrotic syndrome
of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria
. Nephrin is also required for cardiovascular development.
with FYN
, NPHS2
, CD2AP
, KIRREL
, CTNND1
, CDH3
and CASK
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm
Filtration slits
Foot processes of podocytes interdigitate with one another forming filtration slits that, in contrast to those in the glomerular endothelium, are spanned by slit diaphragms.-Structure:...
.
A defect in the gene for nephrin is associated with congenital nephrotic syndrome
Congenital nephrotic syndrome
Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.-Causes:Congenital nephrotic syndrome is a very rare form of nephrotic syndrome. It occurs predominantly in families of Finnish origin and manifests shortly after birth. It is an...
of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria
Proteinuria
Proteinuria means the presence of anexcess of serum proteins in the urine. The protein in the urine often causes the urine to become foamy, although foamy urine may also be caused by bilirubin in the urine , retrograde ejaculation, pneumaturia due to a fistula, or drugs such as pyridium.- Causes...
. Nephrin is also required for cardiovascular development.
Interactions
Nephrin has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with FYN
FYN
Proto-oncogene tyrosine-protein kinase Fyn is an enzyme that in humans is encoded by the FYN gene.This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth...
, NPHS2
NPHS2
Podocin is a protein that in humans is encoded by the NPHS2 gene.-Interactions:NPHS2 has been shown to interact with Nephrin and CD2AP.-Further reading:...
, CD2AP
CD2AP
CD2-associated protein is a protein that in humans is encoded by the CD2AP gene.-Interactions:CD2AP has been shown to interact with NPHS2, Nephrin, Cbl gene and RAB4A.-Further reading:...
, KIRREL
KIRREL
Kin of IRRE-like protein 1 is a protein that in humans is encoded by the KIRREL gene.-Interactions:KIRREL has been shown to interact with Nephrin and Tight junction protein 1.-Further reading:...
, CTNND1
CTNND1
Catenin delta-1 is a protein that in humans is encoded by the CTNND1 gene.-Interactions:CTNND1 has been shown to interact with Beta-catenin, FYN, Collagen, type XVII, alpha 1, PTPN6, YES1, PTPRJ, VE-cadherin, MUC1, CDH1, CDH2, PTPRM, Cortactin, Nephrin, ZBTB33 and PSEN1.-Further reading:...
, CDH3
CDH3 (gene)
Cadherin-3 is a protein that in humans is encoded by the CDH3 gene.-Interactions:CDH3 has been shown to interact with CDH1, Beta-catenin, Plakoglobin, Nephrin and Catenin , alpha 1.-Further reading:...
and CASK
CASK
Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. This gene is also known by several other names: CMG 2 , calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.-Genomics:This gene is located on the short arm of...
.