| Gene Symbol | OCRL |
| Entrez Gene ID | 4952 |
| Full Name | OCRL, inositol polyphosphate-5-phosphatase |
| Synonyms | INPP5F,LOCR,NPHL2,OCRL-1,OCRL1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3) |







































User Manual