Gene Symbol | OCRL |
Entrez Gene ID | 4952 |
Full Name | OCRL, inositol polyphosphate-5-phosphatase |
Synonyms | INPP5F,LOCR,NPHL2,OCRL-1,OCRL1 |
General protein information |
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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) |