Product Overview
Blocking/Immunizing peptide for anti-RPGRIP1L antibody
Tag/Conjugate
Unconjugated
Application Notes
For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.
Format
Lyophilized powder
Storage
Shipped at ambient temperature, store at -20°C.
Antigen Description
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, Jul 2008]
Function
protein binding; thromboxane A2 receptor binding;
Synonyms
RPGRIP1L; RPGRIP1-like; protein fantom; CORS3; fantom homolog; FTM; JBTS7; KIAA1005; Meckel syndrome; type 5; MKS5; NPHP8; nephrocystin 8; nephrocystin-8; RPGRIP1-like protein; RPGR-interacting protein 1-like protein; DKFZp686C0668;
Citations
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Coene, KLM; Mans, DA; et al. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. HUMAN MOLECULAR GENETICS 20:3592-3605(2011).
Arts, HH; Doherty, D; et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. NATURE GENETICS 39:882-888(2007).