Feb 04, 2025
OCRL Inositol Polyphosphate-5-Phosphatase
This gene encodes a protein that plays a role regulating membrane trafficking and potentially primary cilium formation. Mutations in this gene are associated with oculocerebrorenal syndrome of Lowe and Dent disease [provided by RefSeq, Jan 2016].
A hemizygous X-linked change in this gene was identified in a UDN participant.
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