Cell Biology Antibodies 18

Anti-RPGRIP1L Antibody (CAB18214)

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SKU:
CAB18214
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-RPGRIP1L Antibody
Antibody SKU:CAB18214
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant protein of human RPGRIP1L.
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:
Immunogen:Recombinant protein of human RPGRIP1L.
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:23322
Uniprot:Q68CZ1
Cellular Location:
Calculated MW:151kDa
Observed MW:Refer to figures
Synonyms:FTM, MKS5, CORS3, JBTS7, NPHP8, PPP1R134, RPGRIP1L
Background: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).
UniProt Protein Function: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.
UniProt Protein Details:

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; in utero embryonic development; negative regulation of G-protein coupled receptor protein signaling pathway; 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; 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

NCBI Summary: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 Code:Q68CZ1
NCBI GenInfo Identifier:296434514
NCBI Gene ID:23322
NCBI Accession:Q68CZ1.2
UniProt Secondary Accession:Q68CZ1,Q9Y2K8, A0PJ88,
UniProt Related Accession:Q68CZ1
Molecular Weight:1315
NCBI Full Name:Protein fantom
NCBI Synonym Full Names:RPGRIP1-like
NCBI Official Symbol:RPGRIP1L  
NCBI Official Synonym Symbols:FTM; MKS5; CORS3; JBTS7; NPHP8; PPP1R134  
NCBI Protein Information:protein fantom; fantom homolog; nephrocystin-8; RPGR-interacting protein 1-like protein; protein phosphatase 1, regulatory subunit 134
UniProt Protein Name:Protein fantom
UniProt Synonym Protein Names:Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein
UniProt Gene Name:RPGRIP1L  
UniProt Entry Name:FTM_HUMAN
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