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OCRL1

MIM.300535 Xq26.1

Wednesday 15 October 2003

Definition: The OCRL1 gene encodes a phosphatidylinositol 4,5-bisphosphate-5-phosphatase localized to the trans-Golgi network that is involved in actin polymerization.

Pathology

- germline mutations of OCRL1 in

  • Lowe disease
  • Dent disease

Animal models

- Inactivation of the OCRL1 gene in mice failed to reproduce the abnormalities that occur in humans with the oculocerebrorenal syndrome, indicating that in mice, another gene product compensates for the loss of the OCRL-1 protein.

References

- Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: 11027745

- J√§nne PA, Suchy SF, Bernard D, et al. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest 1998;101:2042-2053.