Anti-OCRL Antibody Picoband® Fluoro488 Conjugated

Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans. 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.

Strongly expressed in placenta. Expressed at lower levels in heart, pancreas, kidney and brain. Expressed in endothelial cells. Isoform alpha was found to be the predominant isoform. Isoform beta was not found in pancreas and brain.

1. Attree, O., Olivos, I. M., Okabe, I., Bailey, L. C., Nelson, D. L., Lewis, R. A., McInnes, R. R., Nussbaum, R. L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358: 239-242, 1992. 2. Bailey, L. C., Jr., Olivos, I. M., Leahey, A. M., Attree, O. F., Okabe, I., Lewis, R. A., MacInnes, R. R., Spinner, N. B., Nelson, D. L., Nussbaum, R. L. Characterization of a candidate gene for OCRL. (Abstract) Am. J. Hum. Genet. 51 (suppl.) : A4 only, 1992. 3. Bockenhauer, D., Bokenkamp, A., Nuutinen, M., Unwin, R., van't Hoff, W., Sirimanna, T., Vrljicak, K., Ludwig, M. Novel OCRL mutations in patients with Dent-2 disease. J. Pediat. Genet. 1: 15-23, 2012.