Nephrocystin-5 (R467) Peptide

CEP290 activates ATF4 mediated transcription and is required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. CEP290 is ubiquitously expressed; strongly in placenta and weakly in brain. There are two named isoforms. Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5), Senior-Loken syndrome type 6 (SLSN6) [MIM:610189], Leber congenital amaurosis type 10 (LCA10) and Meckel syndrome type 4 (MKS4) [MIM:611134]. Antibodies against CEP290 are present in sera from patients with cutaneous T cell lymphomas, but not in the healthy control population.

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SPECIFICATIONS

Catalog Number

BS3319P

Applications

BNI

Form

1 mg/ml in DI water.

Purity

Synthetic peptide Nephrocystin-5 (R467). (Note: the amino acid sequence is proprietary). The purity is > 98%.

Swiss Prot

Q15051

Storage Temp

Store at 4 degree C short term. Aliquot and store at -20 degree C long term. Avoid freeze-thaw cycles.

Additional Info

This peptide can be used with studies using BS3319 Nephrocystin-5 (R467) pAb.

Alternative Names

3H11AG; BBS14; CT87; JBTS5; JBTS6; LCA10; MKS4; NPHP6; Nephrocystin 6; SLSN6 1; 2; 5; rd16; CTCL tumor antigen se2 2; Cancer/testis antigen 87; Centrosomal protein 290kDa; Monoclonal antibody 3H11 antigen; Prostate cancer antigen T21