Entrez 4952 | Ensembl ENSG00000122126 | |
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Aliases OCRL, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase External IDs OMIM: 300535 MGI: 109589 HomoloGene: 233 GeneCards: OCRL | ||
Inositol polyphosphate 5-phosphatase OCRL-1 (INPP5F), 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 a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.
Mutation in this gene are associated with oculocerebrorenal syndrome and also with Dent's disease.
References
OCRL Wikipedia(Text) CC BY-SA