Gene: NPHP1
Alternate names for this Gene: JBTS4|NPH1|SLSN1
Gene Summary: This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 2
Location in Chromosome : 2q13
Description of this Gene: nephrocystin 1
Type of Gene: protein-coding
rs765263671 in
NPHP1 gene and
Nephronophthisis
PMID 18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
PMID 16762963 2006 Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.