Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 2
CORS3; FTM; JBTS7; MKS5; NPHP8
Peptide with sequence C-DKENNKAKRDILK, from the internal region of the protein sequence according to NP_056087.2.
Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide. Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin. Aliquot and store at -20°C. Minimize freezing and thawing. (Protein A or G Sepharose)
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ELISA: 1:64,000. WB: 0.3-1µg/ml.
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
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