Description
Product Characteristics:
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).
Subcellular location: Cytoplasm
Synonyms: CORS 3, CORS3, Fantom, FTM, JBTS 1, JBTS 7, JBTS1, JBTS7, Joubert syndrome 1, Joubert syndrome 7, Meckel syndrome, type 1, RPGRIP1-like, Meckel syndrome, type 5, MKS 5, MKS5, NPHP 8, NPHP8, nephrocystin 8, Protein fantom, Retinitis pigmentosa GTPase regulator interacting protein 1 like, RPGR interacting protein 1 like protein, RPGRIP1 like protein, FTM_HUMAN.
Target Information: 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]