Search results for NPHP1 antibody

NPHP1 antibody, Covalab, Ref 00111695

NPHP1 antibody, Genetex, GTX65891

Anti-NPHP1 antibody, Abcam, AB211422

NPHP1 antibody, Internal, Genetex, GTX45112

Nephrocystin 1 (NPHP1) Antibody, Abbexa, abx110038

Nephrocystin-1 Antibody is a Rabbit Polyclonal antibody against Nephrocystin-1.

Nephrocystin 1 (NPHP1) Antibody, Abbexa, abx005117

NPHP1 Antibody is a Rabbit Polyclonal antibody against NPHP1. 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.