Product Description

NPHP3 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES14461-50, ES14461-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human NPHP3 AA range: 1092-1142

Isotype: IgG

Target: NPHP3

Specificity: This antibody detects endogenous levels of NPHP3 at Human/Mouse

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Widely expressed at low level, Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas, Expressed at very low level in brain and lung,

Molecular Weight (Da): 146kD

Function: Alternative Products: Additional isoforms seem to exist,Disease: Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM: 208540]. RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation
Disease: Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM: 604387], also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilatation, sclerosing tubulointerstitial neph

Subcellular Location: Cell projection, cilium Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus

Storage and Stability: -20°C/1 year

Gene Name: NPHP3 KIAA2000

Protein Name: NPHP3

Mouse Gene ID: 74025

Mouse SwissProt Number: Q7TNH6

Research Use Only