Entrez 4867 | Ensembl ENSG00000144061 | |
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Aliases NPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1 External IDs MGI: 1858233 HomoloGene: 229 GeneCards: NPHP1 | ||
Function
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.
Interactions
NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and INVS.
References
NPHP1 Wikipedia(Text) CC BY-SA