QuickView for nephrin (gene)

Gene Symbol:

NPHS1 Homo sapiens

Full name:

NPHS1, nephrin

Synonyms:

CNF, NPHN, nephrin, nephrin, nephrosis 1, congenital, Finnish type (nephrin), renal glomerulus-specific cell adhesion receptor, truncated NPHS1

Genomic Location:

Chr 19: 41008697-41034579

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYCMAX_02 ,  TGCTGAY_UNKNOWN

Cytogenetic Map:

19q13.12

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