ELISA/assay

Human Protein fantom, RPGRIP1L ELISA Kit

MBS9321726

48-Strip-Wells

470 USD

ELISA Kit

Human Protein fantom, RPGRIP1L ELISA Kit

[RPGRIP1-like]

[Human Protein fantom (RPGRIP1L) ELISA kit; CORS3; DKFZp686C0668; JBTS7; KIAA1005; MKS5; NPHP8; RPGR-interacting protein 1-like protein; nephrocystin 8; protein fantom; RPGRIP1-like]

[protein fantom isoform b; Protein fantom; protein fantom; fantom homolog; nephrocystin-8; RPGR-interacting protein 1-like protein; protein phosphatase 1, regulatory subunit 134; RPGRIP1-like; Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein]

[RPGRIP1L]

[RPGRIP1L; RPGRIP1L; FTM; MKS5; CORS3; JBTS7; NPHP8; PPP1R134; FTM; KIAA1005; NPHP8; RPGRIP1-like protein]

FTM_HUMAN

Human

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

Assay Type: Quantitative Sandwich. Detection Range: 3.12 ng/ml - 100 ng/ml. Sensitivity: 1.0 ng/ml

Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].

Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of RPGRIP1L (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

189217904

NP_001121369.1

NM_001127897.1

Q68CZ1

151,201 Da

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; axoneme; intercellular junction; 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; cilium biogenesis; cerebellum development; establishment of planar polarity; determination of left/right symmetry; kidney development; nose development; lateral ventricle development; regulation of smoothened signaling pathway. Disease: Coach Syndrome; Meckel Syndrome, Type 5; Joubert Syndrome 1; Joubert Syndrome 7

48-Strip-Wells

470 USD

96-Strip-Wells

680

5x96-Strip-Wells

3100

10x96-Strip-Wells

6095