SAB1406191

Anti-NPHP1 antibody produced in mouse

purified immunoglobulin, buffered aqueous solution

• Sinónimos: FLJ97602, JBTS4, NPH1, SLSN1
• UNSPSC Code: 12352203
• NACRES: NA.43

Propiedades

• biological source: mouse
• conjugate: unconjugated
• antibody form: purified immunoglobulin
• antibody product type: primary antibodies
• clone: polyclonal
• form: buffered aqueous solution
• mol wt: antigen ~14.3 kDa
• species reactivity: human
• technique(s): western blot: 1 μg/mL
• NCBI accession no.: NM_207181.1
• UniProt accession no.: O15259
• shipped in: dry ice
• storage temp.: −20°C
• target post-translational modification: unmodified
• Gene Information: human ... NPHP1(4867)

Descripción

General description

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. (provided by RefSeq)

Immunogen

NPHP1 (NP_997064.1, 1 a.a. ~ 121 a.a) full-length human protein.

Sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF

Physical form

Solution in phosphate buffered saline, pH 7.4

Información de seguridad

• Storage Class: 10 - Combustible liquids
• wgk_germany: WGK 1
• flash_point_f: Not applicable
• flash_point_c: Not applicable