Product Description

OCRL Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES2998-50, ES2998-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB, ELISA

Alternate Names: OCRL, INPP5F, OCRL1, Inositol polyphosphate 5-phosphatase OCRL-1, Lowe oculocerebrorenal syndrome protein

Clonality: Polyclonal

Immunogen: The antiserum was produced against synthesized peptide derived from human OCRL. AA range:150-199

Isotype: IgG

Target: OCRL

Specificity: OCRL Polyclonal Antibody detects endogenous levels of OCRL protein.

Dilution: Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.

Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts, Expressed in the retina and the retinal pigment epithelium,

Observed Band (KD): 104kD

Fields: Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system

Function: Catalytic Activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate
Caution: It is uncertain whether Met-1, Met-18 or Met-20 is the initiator
Disease: 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 c

Subcellular Location: Cytoplasmic vesicle, phagosome membrane Early endosome membrane Membrane, clathrin-coated pit Cell projection, cilium, photoreceptor outer segment Cell projection, cilium Cytoplasmic vesicle Endosome Golgi apparatus, trans-Golgi network Lysosome Also found on macropinosomes (PubMed:25869668) Colocalized with APPL1 on phagosomes (PubMed:22072788)

Storage and Stability: -20°C/1 year

Gene Name: OCRL

Protein Name: Inositol polyphosphate 5-phosphatase OCRL-1

Research Use Only