Key features and details
- Rabbit polyclonal to OCRL
- Suitable for: WB, IHC-P, ICC/IF
- Reacts with: Human
- Isotype: IgG
Product nameAnti-OCRL antibody
See all OCRL primary antibodies
DescriptionRabbit polyclonal to OCRL
Tested applicationsSuitable for: WB, IHC-P, ICC/IFmore details
Species reactivityReacts with: Human
Recombinant fragment corresponding to Human OCRL aa 591-857.
Database link: Q01968
- 293T and A431 cell lysates, A431 cells and Human Breast ca tissue.
This product was previously labelled as INPP5F
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Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.00
Preservative: 0.01% Thimerosal (merthiolate)
Constituents: 1.21% Tris, 0.75% Glycine, 20% Glycerol (glycerin, glycerine)
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab125917 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/3000. Detects a band of approximately 104 kDa.|
|IHC-P||1/100 - 1/500. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol. citrate buffer-10mM|
|ICC/IF||1/100 - 1/500.|
FunctionConverts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes.
Tissue specificityBrain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts.
Involvement in diseaseDefects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]. It is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
Sequence similaritiesBelongs to the inositol-1,4,5-trisphosphate 5-phosphatase type II family.
Contains 1 Rho-GAP domain.
Cellular localizationEndosome. Also found on macropinosomes.
- Information by UniProt
- EC 220.127.116.11 antibody
- Inositol polyphosphate 5 phosphatase OCRL 1 antibody
- Inositol polyphosphate 5 phosphatase OCRL1 antibody
All lanes : Anti-OCRL antibody (ab125917) at 1/500 dilution
Lane 1 : 293T whole cell lysate
Lane 2 : A431 whole cell lysate
Lysates/proteins at 30 µg per lane.
ab125917, at 1/500, staining OCRL in Human A431 cells (methanol-fixed) by immunofluorescence (panel 1) and co-stained with Hoechst 33342 (panel 2).
ab125917, at 1/250, staining OCRL in Human Breast ca tissue by immunohistochemistry [Paraffin Embedded Tissues (IHC-P)].
ab125917 has not yet been referenced specifically in any publications.