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NPHP3 rabbit pAb

NPHP3 rabbit pAb

ENT-A12593

Description

 

 

 

REF ENT-A12593
Category Antibody Polyclonal
Description NPHP3 rabbit pAb
Source Rabbit
Applications WB
Reactivity Human; Mouse
Reactivity Human; Mouse
Dilution WB 1:500-2000
Immunogen Synthesized peptide derived from human NPHP3 AA range: 1092-1142
Storage Stability -20°C/1 year
Clonality Polyclonal
Isotype IgG
Concentration 1 mg/ml
Observed Band KD
Human Gene ID 27031
Human Swiss Prot Nº Q7Z494
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.

Other Name:

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],