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anti-RPGRIP1L antibody :: Goat RPGRIP1L Polyclonal Antibody

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Catalog # MBS421549
Unit / Price
  0.1 mg  /  $300 +1 FREE 8GB USB
Western Blot (WB)
Product Name

RPGRIP1L, Polyclonal Antibody

Full Product Name

Goat anti-RPGRIP1L Antibody

Product Synonym Names
RPGRIP1-like; CORS3; DKFZp686C0668; JBTS7; KIAA1005; MKS5; RPGRIP1-like antibody; CORS3 antibody; DKFZp686C0668 antibody; JBTS7 antibody; KIAA1005 antibody; MKS5 antibody
Antibody/Peptide Pairs
RPGRIP1L peptide (MBS426359) is used for blocking the activity of RPGRIP1L antibody (MBS421549)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
DKENNKAKRD ILK
OMIM
216360
Clonality
Polyclonal
Host
Goat
Species Reactivity
Tested: Human; Expected from sequence similarity: Human, Dog,
Purity/Purification
Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
Form/Format
Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
Concentration
100ug specific antibody in 200ul (lot specific)
Immunogen
Peptide with sequence C-DKENNKAKRDILK, from the internal region of the protein sequence according to NP_056087.2.
Epitope
Internal region
Preparation and Storage
Aliquot and store at -20 degree C. Minimize freezing and thawing.
ISO Certification
Manufactured in an ISO 9001:2015 Certified Laboratory.
Other Notes
Small volumes of anti-RPGRIP1L antibody 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.
Applications Tested/Suitable for anti-RPGRIP1L antibody
Peptide ELISA (EIA), Western Blot (WB)
Application Notes for anti-RPGRIP1L antibody
Peptide ELISA: Antibody detection limit dilution 1: 64000.
Western Blot: Approx 150kDa band observed in Human Brain (Cerebellum) lysates (calculated MW of 151kDa according to NP_056087.2). Recommended concentration: 0.3-1ug/ml.

Western Blot (WB) of anti-RPGRIP1L antibody
(0.3ug/ml) staining of Human Brain (Cerebellum) lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.
anti-RPGRIP1L antibody Western Blot (WB) (WB) image
NCBI/Uniprot data below describe general gene information for RPGRIP1L. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
142,792 Da
NCBI Official Full Name
protein fantom isoform a
NCBI Official Synonym Full Names
RPGRIP1 like
NCBI Official Symbol
RPGRIP1L  [Similar Products]
NCBI Official Synonym Symbols
FTM; MKS5; CORS3; JBTS7; NPHP8; PPP1R134
  [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]
UniProt Entry Name
FTM_HUMAN
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). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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; 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
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
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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