OCRL
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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.[1]
This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.[1]
Mutation in this gene are associated with oculocerebrorenal syndrome[2] and also with Dent's disease.[3][4]
References
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Lowe Syndrome
- OCRL protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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