OCRL / HRP / S166A-26
Product Details
Description | Mouse monoclonal to OCRL (HRP). Inositol polyphosphate 5-phosphatase OCRL-1 (ORCL) is also called Lowe oculocerebrorenal syndrome protein. ORCL is a phosphotase that converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate, as well as inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. ORCL is involved in primary cilia assembly and may also have a role in lysosomal membrane trafficking. ORCL is expressed in brain, skeletal muscle, heart, kidney, lung, placenta, fibroblasts, retina and the retinal pigment epithelium. OCRL defects can cause Lowe oculocerebrorenal syndrome (OCRL) and Dent disease type 2 (DD2).. | |
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Conjugate | HRP | |
Clone | S166A-26 | |
Target Species | Human, Rat | |
Applications | IF, ICC, WB | |
Supplier | Biorbyt | |
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About OCRL
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]
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]
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