OCRL( Human )

Entrez Gene 4952 Entrez Gene 4952
OCRL, inositol polyphosphate-5-phosphatase

Alias

INPP5F|LOCR|NPHL2|OCRL-1|OCRL1

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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