NPHP1 Polyclonal Antibody

Ab type

Primary antibody

Background

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 diffe

Reactivity

Human, Mouse

Clonality

Polyclonal

Host

Rabbit

Isotype

IgG

Immunogen

Synthesized peptide derived from human protein . at AA range: 510-590

Storage Stability

-20°C for 1 year

Concentration

1 mg/ml

MolecularWeight_Da

synonyms

Nephrocystin-1 ;Juvenile nephronophthisis 1 protein