NPHP1
From Wikipedia, the free encyclopedia
Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[5]
External IDsOMIM: 607100; MGI: 1858233; HomoloGene: 229; GeneCards: NPHP1; OMA:NPHP1 - orthologs
Function
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[5]