Nephrin

  • OMIM: 602716
  • MGI: 1859637

Nephrin is a protein that is significantly involved in the formation of the slit diaphragm of the renal corpuscle. In addition, nephrin is involved in signal transmission in the range of the renal corpuscle. Nephrin is encoded by the gene NPHS1. The mutation of NPHS1 nephrotic syndrome is the cause of congenital by the Finnish type, a rare autosomal recessive genetic disorder that occurs within three months after birth and results in severe protein loss in the urine.

Protein isoform Human Genome Organisation Mouse Genome Informatics Entrez Ensembl UniProt National Center for Biotechnology Information
597838
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