Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

NPHS1 encodes nephrin, the core protein of the interpodocyte slit diaphragm of the kidney glomerulus. NPHS1 is the causative gene for congenital nephrotic syndrome of the Finnish type (CNF) with massive, treatment resistant proteinuria. We report here the establishment of a novel nephrin-like gene, NLG1 encoding filtrin, a protein with substantial homology to human nephrin. Filtrin is a type I transmembrane protein consisting of 708 amino acids. Together with the recently cloned NEPH1, NLG1 establishes a new nephrin-like subgroup of genes belonging to the immunoglobulin superfamily of cell adhesion molecules. The RNA dot blot experiment revealed that the NLG1 mRNA expression is widely distributed but most prominently observed in the pancreas and lymph nodes. The expression of NLG1 mRNA in kidney glomeruli was verified with RT-PCR. Further immunoblotting studies with antifiltrin antibody showed a specific band at 107kDa in the human and rat glomeruli. In immunofluorescence microscopy specific staining of glomeruli but also proximal and distal parts of the nephron was seen in human kidney cortex. Due to its structural similarity and sequence homology as well as partially consistent expression pattern with nephrin we propose that filtrin belongs to a functionally important complex of proteins of the glomerular filtration barrier.
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PMID:Filtrin is a novel member of nephrin-like proteins. 1250 92