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OCRL


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Symbol:OCRL
Name(s):oculocerebrorenal syndrome of Lowe
Type:protein-coding
Organism:Homo sapiens
Synonyms:INPP5F, LOCR, NPHL2, OCRL1
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
18019214 abnormalities in the CLCN5 and OCRL1 genes in Dent's disease [review]
17765681 A role is reported for OCRL in early steps of the endocytic pathway.
15829501 suggests that Ocrl1 is active as a PIP2 5-phosphatase in Rac induced membrane ruffles
16902405 rabs play a dual role in regulation of OCRL1, firstly targeting it to the Golgi apparatus and endosomes, and secondly, directly stimulating the 5-phosphatase activity of OCRL1 after membrane recruitment.
16420990 p.Phe259Ser mutation found in a case of Lowe syndrome (amino acid substitution)
12428211 The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
15917292 OCRL1 is associated with clathrin-coated transport intermediates operating between the trans-Golgi network (TGN) and endosomes
12915445 OCRL1 interacts with Rac GTPase in the trans-Golgi network.
17384968 One frame shift mutation and two misssense mutations were identified in three male patients with the Dent disease phenotype.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDGrb2phosphatidylinositol polyphosphate 5-phosphatase isoform a--Pubmed
HPRDgrowth factor receptor-bound protein 2 isoform 1Phosphatidylinositol polyphosphate 5-phosphatase--Pubmed
HPRDPhosphatidylinositol polyphosphate 5-phosphataseGolgi autoantigen, golgin subfamily a, 5--Pubmed
HPRDphosphatidylinositol polyphosphate 5-phosphatase isoform aGolgin 84--Pubmed

Recent Publications on OCRL:

Pubmed Logo
Interaction of Rab31 and OCRL-1 in oligodendrocytes: Its role in transport of mannose 6-phosphate receptors.
Rab31, a protein that we cloned from an oligodendrocyte cDNA library, is...
2nd October, 2009
Department of Neurology, Albert Einstein College of Medicine, Yeshiva J Neurosci Res. 2009 Sep 30.
DOI Direct Link
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
Lowe syndrome is a multisystem disorder characterized by anomalies of the...
1st October, 2009
Department of Medical Genetics, Istanbul University Cerrahpasa Medical J Child Neurol. 2009 Jan;24(1):93-6.
DOI Direct Link
Annexin A2 at the interface between F-actin and membranes enriched in phosphatidylinositol 4,5,-bisphosphate.
Vesicle rocketing has been used as a model system for understanding the...
11th September, 2009
Division of Cell Biology, UCL Institute of Ophthalmology, University Biochim Biophys Acta. 2009 Jun;1793(6):1086-95. Epub 2008 Oct 29.
DOI Direct Link
Inherited cerebrorenal syndromes.
Abnormalities in the central nervous system and renal function are seen...
25th August, 2009
Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY Nat Rev Nephrol. 2009 Sep;5(9):529-38.
DOI Direct Link
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
A 10-year-old boy presented with a severe and diffuse mosaic skin...
18th August, 2009
Institute of Neurological Science, National Research Council, Catania, Pediatr Neurol. 2009 May;40(5):383-6.
DOI Direct Link

View more research publications.

Clinical Trials:

Clinical Trials Logo
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

Patents:

Patents logo
US Patent No.Title
7365178 Acyl-nucleotide probes and methods of their synthesis and use in proteomic analysis
6010853 Siva genes, novel genes involved in CD27-mediated apoptosis
5994076 Methods of assaying differential expression
5916764 Human phosphatidylinositol synthase
5701488 Method and apparatus for restoring a target MCU debug session to a prior state

View more patents.

OCRL results (if any) from reagent suppliers

Google CSE Logo
OCRL Antibody / OCRL Antibodies
OCRL Antibody / OCRL Antibodies. ... OCRL specific siRNA, sHRNA Plasmid and shRNA Lentiviral Particles gene silencers are also available. ...
http://www.scbt.com/table-ocrl.html...

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OCRL monoclonal antibody (M02)
OCRL (NP_000267, 146 a.a. ~ 240 a.a) partial recombinant protein with GST tag. ... Western blot analysis of OCRL over-expressed 293 cell line, ...
http://www.abgent.com/products/catalog_no/AT3144a_OCRL_monoc...

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OCRL (4E3) Antibody sc-100386
OCRL (4E3): sc-100386. Immunoperoxidase staining of formalin-fixed, paraffin- embedded human kidney tissue showing cytoplasmic localization. ...
http://www.scbt.com/datasheet-100386-ocrl-4e3-antibody.html...

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Genetic Disease Markers
Oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody, PAB-10923, $175.00. Oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody, PAB-
10925 ...
http://www.orbigen.com/dictionary/cat1052.htm...

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OCRL (N-16) Antibody sc-12087
Western blot analysis of OCRL expression in KNRK whole cell lysate. sc-12087. OCRL (N-16): sc-12087. Immunoperoxidase staining of formalin-fixed, ...
http://www.scbt.com/datasheet-12087-ocrl-n-16-antibody.html...

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Abgent - Cell and Structure Antibodies - Cell_structure
AT3144aNEW, OCRL monoclonal antibody (M02), ELISA,IHC-P,RNAi-Ab,S-ELISA,WB-Ce,WB -Re, H. AT3161aNEW, OXSR1 monoclonal antibody (M01), ELISA,IF,S-ELISA,WB-Ce ...
http://www.abgent.com/products/category/cell_function/cell_s...

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OCRL Antibody / OCRL Antibodies
OCRL Antibody / OCRL Antibodies. ... OCRL spezifische siRNA, sHRNA Plasmide und shRNA Lentivirale Partikel Gen Silencer sind ebenfalls erhältlich. ...
http://www.scbt.com/de/table-ocrl.html...

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