XB-FEAT-991488

ocrl

This is the community wiki page for the gene ocrl please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

undated:

Human name has changed for Entrez Gene: 4952. From oculocerebrorenal syndrome of Lowe to OCRL, inositol polyphosphate-5-phosphatase

05.13.19 Human name has changed for Entrez Gene: 4952. From OCRL, inositol polyphosphate-5-phosphatase to OCRL inositol polyphosphate-5-phosphatase

Summary from NCBI for human 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]