BAIT

NPHS1

CNF, NPHN, nephrin
nephrosis 1, congenital, Finnish type (nephrin)
GO Process (3)
GO Function (2)
GO Component (4)
Homo sapiens

Phenotypic Suppression

A genetic interaction is inferred when mutation or over expression of one gene results in suppression of any phenotype (other than lethality/growth defect) associated with mutation or over expression of another gene.

Publication

Interaction with podocin facilitates nephrin signaling.

Huber TB, Kottgen M, Schilling B, Walz G, Benzing T

Mutations of NPHS1 or NPHS2, the genes encoding for the glomerular podocyte proteins nephrin and podocin, cause steroid-resistant proteinuria. In addition, mice lacking CD2-associated protein (CD2AP) develop a nephrotic syndrome that resembles NPHS mutations suggesting that all three proteins are essential for the integrity of glomerular podocytes. Although the precise glomerular function of either protein remains unknown, it has been ... [more]

J. Biol. Chem. Nov. 09, 2001; 276(45);41543-6 [Pubmed: 11562357]

Throughput

  • Low Throughput

Curated By

  • BioGRID