Nephronophthisis Products

Antibodies
Nephronophthisis Antibody
Nephronophthisis Antibody
H00004867-D01P
Species: Hu, Mu
Applications: WB, ELISA
Host: Rabbit Polyclonal
Nephronophthisis Antibody
Nephronophthisis Antibody
NBP2-13672
Species: Hu
Applications: IHC, IHC-P
Host: Rabbit Polyclonal
Nephronophthisis Antibody
Nephronophthisis Antibody
NBP1-59110
Species: Hu
Applications: WB
Host: Rabbit Polyclonal
Antibody Pairs
Nephronophthisis Antibody Pai ...
Nephronophthisis Antibody Pair
H00004867-AP21
Species: Hu
Applications: S-ELISA
Nephronophthisis Antibody Pai ...
Nephronophthisis Antibody Pair
H00004867-PW1
Species: Hu
Applications: WB, IP
Lysates
Nephronophthisis Overexpressi ...
Nephronophthisis Overexpression Ly...
H00004867-T01
Species: Hu
Applications: WB
Nephronophthisis Overexpressi ...
Nephronophthisis Overexpression Ly...
H00004867-T02
Species: Hu
Applications: WB
Proteins
Nephronophthisis Recombinant ...
Nephronophthisis Recombinant Protein
H00004867-P01
Species: Hu
Applications: WB, ELISA, PA
Nephronophthisis Partial Reco ...
Nephronophthisis Partial Recombina...
H00004867-Q01
Species: Hu
Applications: WB, ELISA, PA
Nephronophthisis Recombinant ...
Nephronophthisis Recombinant Prote...
NBP2-13672PEP
Species: Hu
Applications: AC

Description

Nephronophthisis 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. [provided by RefSeq]

Bioinformatics

Uniprot Human
Product By Gene ID 4867
Alternate Names
  • nephrocystin-1
  • SLSN1
  • nephrocystin 1
  • JBTS4NPH1Juvenile nephronophthisis 1 protein
  • FLJ97602
  • nephronophthisis 1 (juvenile)

PTMs for Nephronophthisis

Learn more about PTMs related to Nephronophthisis.

Phosphorylation
Cleavage
Acetylation

Bioinformatics Tool for Nephronophthisis

Discover related pathways, diseases and genes to Nephronophthisis. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.
 
Vizit™, under license from BioVista Inc.