RPGRIP1L Antibody – Goat Polyclonal

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]

RPGRIP1L: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4. Does not seem to be strictly required for ciliogenesis. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome. Defects in RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in RPGRIP1L are the cause of Meckel syndrome type 5 (MKS5). MKS is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in RPGRIP1L are a cause of COACH syndrome (COACHS). It is a disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain- hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. Belongs to the RPGRIP1 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 16q12.2

Cellular Component: axoneme; centrosome; cilium; cytoplasm; cytosol; intercellular junction; tight junction

Molecular Function: protein binding; thromboxane A2 receptor binding

Biological Process: camera-type eye development; cerebellum development; cilium biogenesis; corpus callosum development; determination of left/right symmetry; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; establishment and/or maintenance of cell polarity; establishment of planar polarity; in utero embryonic development; kidney development; lateral ventricle development; liver development; negative regulation of G-protein coupled receptor protein signaling pathway; neural tube patterning; nose development; olfactory bulb development; pericardium development; regulation of smoothened signaling pathway

Disease: Coach Syndrome; Joubert Syndrome 1; Joubert Syndrome 7; Meckel Syndrome, Type 5