NPHP3 rabbit pAb

• 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]

• Description:

  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],

• UniProt:

  Q7Z494

• Swiss Prot:

  Q7Z494

• Reactivity:

  Human; Mouse

• Immunogen:

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

• Clonality:

  Polyclonal

• Source:

  Rabbit

• Applications:

  WB

• Concentration:

  1 mg/ml

• Dilution:

  WB 1: 500-2000

• Storage Conditions:

  -20°C/1 year

• Fragment:

  IgG

• 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.

• Gene ID (Human):

  27031