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.
| Gene | Inheritance | Position (hg19) | Transcript | DNA Change | Protein Change |
|---|---|---|---|---|---|
| OCRL | X-linked inheritance | chrX:g.128710533A>G | NM_000276.4 | c.2115+4A>G | N/A |
Interested in learning more about this gene or sharing what you know? Contact us!