NPHS1, Official Symbol NPHS1provided by HGNC Official Full Name NPHS1 adhesion molecule, nephrinprovided by HGNC Primary source HGNC:HGNC:7908 See related Ensembl:ENSG00000161270 MIM:602716; AllianceGenome:HGNC:7908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CNF; NPHN; nephrin Summary This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] Expression Biased expression in kidney (RPKM 12.8), pancreas (RPKM 3.0) and 1 other tissue See more Orthologs mouse all