nephronophthisis 1 (juvenile), Mouse, Polyclonal Antibody, Abnova™

Catalog No.	Quantity
89-005-870	50 μL

Catalog No. 89-005-870 Supplier Abnova Corporation Supplier No. H00004867B01

Description

Mouse polyclonal antibody raised against a full-length human NPHP1 protein.

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

Sequence: MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF

Specifications

• Antigen: nephronophthisis 1 (juvenile)
• Applications: Western Blot
• Classification: Polyclonal
• Conjugate: Unconjugated
• Description: Mouse polyclonal antibody raised against a full-length human NPHP1 protein.
• Formulation: No additive
• Gene: NPHP1
• Gene Accession No.: NM_207181.1
• Gene Alias: FLJ97602/JBTS4/NPH1/SLSN1
• Gene Symbols: NPHP1
• Host Species: Mouse
• Immunogen: NPHP1 (NP_997064.1, 1 a.a. ∼ 121 a.a) full-length human protein.
• Quantity: 50 μL
• Regulatory Status: RUO
• Whole Molecule: Yes
• Primary or Secondary: Primary
• Gene ID (Entrez): 4867
• Target Species: Human
• Content And Storage: Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
• Form: Serum