Human oculocerebrorenal syndrome of Lowe ELISA Kit | OCRL elisa kit
Human Inositol polyphosphate 5-phosphatase OCRL-1, OCRL ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]
Uniprot Description
OCRL: Converts 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. Belongs to the inositol-1,4,5-trisphosphate 5- phosphatase type II family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; EC 3.1.3.36; Phosphatase (non-protein); Carbohydrate Metabolism - inositol phosphate
Chromosomal Location of Human Ortholog: Xq25
Cellular Component: Golgi stack; clathrin-coated vesicle; early endosome; coated pit; trans-Golgi network; cytosol; phagocytic vesicle membrane; photoreceptor outer segment; early endosome membrane; cytoplasm; plasma membrane; Golgi-associated vesicle; nucleus
Molecular Function: protein binding; phosphoinositide 5-phosphatase activity; Rac GTPase binding
Biological Process: regulation of small GTPase mediated signal transduction; inositol phosphate metabolic process; in utero embryonic development; small GTPase mediated signal transduction; phospholipid metabolic process; phosphatidylinositol biosynthetic process; cilium biogenesis; phosphoinositide dephosphorylation; lipid metabolic process
Disease: Lowe Oculocerebrorenal Syndrome; Dent Disease 2
Research Articles on OCRL
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Product Notes
The Human OCRL ocrl (Catalog #AAA9339578) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9339578 ELISA Kit recognizes Human OCRL. It is sometimes possible for the material contained within the vial of "oculocerebrorenal syndrome of Lowe, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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