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OSBPL1A encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Additionally we are shipping Oxysterol Binding Protein-Like 1A Antibodies (67) and Oxysterol Binding Protein-Like 1A Proteins (5) and many more products for this protein.
ORP1L-VAP (show F10 ELISA Kits) complexes also support transport of LDL-derived cholesterol from endosomes to the endoplasmic reticulum when ORP1L was bound to human adenovirus RIDalpha. RIDalpha-induced lipid trafficking also attenuated proinflammatory signaling by Toll-like receptor 4 (show TLR4 ELISA Kits), which has a central role in adenovirus pathogenesis and is known to be tightly regulated by cholesterol-rich "lipid rafts."
Three XLRP families (RP-001, RP-002, and RP-003) were reported in this study, and 2 different disease-causing mutations were detected. We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR (show RPGR ELISA Kits) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene.
seven out of 27 families, displaying mutations in the ABCA4 (show ABCA4 ELISA Kits), RP1 (show STK19 ELISA Kits), RP2 and USH2A (show USH2A ELISA Kits) genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
The L66P mutation in the first doublecortin (show DCX ELISA Kits) domain of the Rp1 (show STK19 ELISA Kits) gene impairs Rp1 (show STK19 ELISA Kits) protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 (show STK19 ELISA Kits) mutations.
it reports that different regions of RP1 (show STK19 ELISA Kits) can also lead to arRCD.
Two novel heterozygous null mutations in RP1 (show STK19 ELISA Kits) co-segregate with the disease in autosomal recessive retinitis pigmentosa patients.
RP1 (show STK19 ELISA Kits) phosphorylation at Ser (show SIGLEC1 ELISA Kits)(236) by CK2 (show CSNK2A1 ELISA Kits) seems to play a significant role in cell adhesion and might initiate new insights in the CK2 (show CSNK2A1 ELISA Kits) and EB1 (show MAPRE2 ELISA Kits) family protein association.
Data found pathogenic DNA variants in the genes RP1 (show STK19 ELISA Kits), USH2A (show USH2A ELISA Kits), CNGB3 (show CNGB3 ELISA Kits), NMNAT1 (show NMNAT1 ELISA Kits), CHM (show CHM ELISA Kits), and ABCA4 (show ABCA4 ELISA Kits), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia (show CHM ELISA Kits), or recessive Stargardt/cone-rod dystrophy cases.
The most severe missense mutation occurred in patients with p.D984G in RP1 (show STK19 ELISA Kits).
Osbpl1a silencing in macrophage foam cells enhances endosome motility and results in inhibition of [(3)H]cholesterol efflux to apolipoprotein A-I (show APOA1 ELISA Kits).
OSBP (show OSBP ELISA Kits) regulates hepatic TG metabolism and suggest the involvement of OSBP (show OSBP ELISA Kits) in the insulin (show INS ELISA Kits) signaling pathways that control hepatic lipogenesis.
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist\; they encode different isoforms.
oxysterol-binding protein-related protein 1
, oxysterol-binding protein-like 1A
, oxysterol binding protein-like 1A
, oxysterol binding protein-like protein 1A
, oxysterol-binding protein-related protein 1-like
, OSBP-related protein 1
, oxysterol binding protein-like 1B
, oxysterol-binding protein-related protein 1 variant 1
, oxysterol-binding protein-related protein 1 variant 2
, oxygen-regulated protein 1
, retinitis pigmentosa 1 protein
, retinitis pigmentosa RP1 protein