The RPGRIP1L Polyclonal Antibody, HRP Conjugated from Bioss Inc. is a Rabbit Polyclonal antibody. The RPGRIP1L Polyclonal Antibody, HRP Conjugated has been shown to work in the following applications: EIA, Immunoassay, ELISA, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot.
Description
RPGRIP1L is a 1,315 amino acid protein that belongs to the RPGRIP1 family and is thought to function in programmed cell death, craniofacial development and formation of the left-right axis. Existing as two alternatively spliced isoforms that localize to the cytoplasm, cytoskeleton, centrosome and cilium basal body, RPGRIP1L interacts with nephrocystin-4 and is moderately expressed in brain, retina and kidney. Containing two C2 domains, RPGRIP1L is encoded by a gene that maps to human chromosome 16q12.2. Defects in the gene encoding RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7), COACH syndrome (COACHS) and Meckel syndrome type 5 (MKS5)