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Mouse Anti-OCRL (AA 1-901) Recombinant Antibody (S166A-26) (CBMAB-O0055-CQ)

This product is a mouse antibody that recognizes OCRL (AA 1-901). The antibody S166A-26 can be used for immunoassay techniques such as: WB, IF.
See all OCRL antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
S166A-26
Antibody Isotype
IgG1
Application
WB, IF

Basic Information

Immunogen
Fusion protein amino acids 1-901 (full-length) of human OCRL (accession no. Q01968)
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 1-901

Target

Full Name
oculocerebrorenal syndrome of Lowe
Introduction
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.
Entrez Gene ID
Human4952
Mouse320634
Rat317576
UniProt ID
HumanQ01968
MouseQ6NVF0
RatD3ZGS3
Alternative Names
OCRL, Inositol Polyphosphate-5-Phosphatase; Lowe Oculocerebrorenal Syndrome Protein; Oculocerebrorenal Syndrome Of Lowe; INPP5F; OCRL1; Phosphatidylinositol Polyphosphate 5-Phosphatase
Function
Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818).
Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668).
Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085).
Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).
Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).
Biological Process
Cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
In utero embryonic developmentIEA:Ensembl
Inositol phosphate dephosphorylationManual Assertion Based On ExperimentIBA:GO_Central
Inositol phosphate metabolic processTAS:Reactome
Lipid metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Membrane organizationTAS:Reactome
Phosphatidylinositol biosynthetic processTAS:Reactome
Phosphatidylinositol dephosphorylationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of GTPase activityManual Assertion Based On ExperimentIDA:FlyBase
Signal transductionIEA:InterPro
Cellular 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).
Involvement in disease
Lowe oculocerebrorenal syndrome (OCRL):
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.
Dent disease 2 (DD2):
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.
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For research use only. Not intended for any clinical use.

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