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RPGRIP1L elisa kit :: Porcine Protein Fantom (RPGRIP1L) ELISA Kit

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Catalog # MBS9397551
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RPGRIP1L elisa kit
Product Name

Protein Fantom (RPGRIP1L), ELISA Kit

Full Product Name

Porcine Protein Fantom (RPGRIP1L) ELISA Kit

Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Request for Current Manual Insert
CR749645 mRNA
Species Reactivity
Preparation and Storage
Store all reagents at 2-8 degree C
Product Note
Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
Other Notes
Small volumes of RPGRIP1L elisa kit 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.
Searchable Terms for RPGRIP1Lpurchase
MBS9397551 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Protein Fantom (RPGRIP1L) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing RPGRIP1L. The ELISA analytical biochemical technique of the MBS9397551 kit is based on RPGRIP1L antibody-RPGRIP1L antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect RPGRIP1L antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, RPGRIP1L. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).
NCBI/Uniprot data below describe general gene information for RPGRIP1L. It may not necessarily be applicable to this product.
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
142,792 Da
NCBI Official Full Name
protein fantom isoform f
NCBI Official Synonym Full Names
RPGRIP1 like
NCBI Official Symbol
RPGRIP1L  [Similar Products]
NCBI Official Synonym Symbols
  [Similar Products]
NCBI Protein Information
protein fantom
UniProt Protein Name
Protein fantom
UniProt Synonym Protein Names
Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein
UniProt Gene Name
RPGRIP1L  [Similar Products]
UniProt Synonym Gene Names
FTM; KIAA1005; NPHP8; RPGRIP1-like protein  [Similar Products]
NCBI Summary for RPGRIP1L
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). [provided by RefSeq, Jun 2016]
UniProt Comments for RPGRIP1L
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; bicellular tight junction; centrosome; ciliary rootlet; cilium; cytoplasm; cytosol; intercellular junction; nucleoplasm; photoreceptor connecting cilium; plasma membrane

Molecular Function: protein binding; thromboxane A2 receptor binding

Biological Process: camera-type eye development; cerebellum development; 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 7; Meckel Syndrome, Type 5
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While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

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