FTM; KIAA1005; NPHP8; Protein fantom; Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein

For Research Use Only. Not for use in diagnostic procedures.

Synthetic

RPGRIP1L siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.

> 97%

Lyophilized powder

Shipped at 4 degree C. Store at -20 degree C for one year.

siRNA Negative Control (Catalog# MBS8241404) is a non-targeting 21 nt siRNA recommended as a negative control for experiments using targeted siRNA transfection.

Small volumes of RPGRIP1L sirna vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

siRNA to inhibit RPGRIP1L expression using RNA interference

RNA Interference (RNAi)

142,792 Da

RPGRIP1-like

protein fantom

Protein fantom

FTM; KIAA1005; NPHP8; RPGRIP1-like protein??[Similar Products]

FTM_HUMAN

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

Molecular Function: protein binding; thromboxane A2 receptor binding

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

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

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