Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

OCRL gene

The OCRL gene encodes phosphatidylinositol 4,5-bisphosphate-5-phosphatase and may be involved in such x-linked recessive disorders as Lowe and Dent disease.

Expression

The gene encodes en enzyme, 4,5-bisphosphate-5-phosphatase, which is ubiquitously distributed in the Golgi apparatus.

Phenotype

Two different diseases are associated with mutations of the OCRL1 gene. These are Lowe syndrome and Dent disease. The latter however occurs only in some specific mutations.

Pathology

Pathomechanisms theat link the mutation to the clenical features are not fully understood yet. It is discussed that dysfunction may alter a cell's polarity, which seems to be of particular importance in renal tubular and corneal cells. Also, it is observed that patients urinary megalin excretion is low, which indicates a disturbed recycling process.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Lowe disease
OCRL
Dent disease
CLCN5
OCRL
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL

References:

1.

Hoopes RR et al. (2005) Dent Disease with mutations in OCRL1.

external link
2.

Suchy SF et al. (2002) The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.

external link
3.

Pendaries C et al. (2003) Phosphoinositide signaling disorders in human diseases.

external link
4.

Faucherre A et al. (2003) Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

external link
5.

AURICCHIO S et al. (1961) [Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)]

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6.

Faucherre A et al. (2005) Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

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7.

Choudhury R et al. (2005) Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.

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8.

None (2005) Structure and function of the Lowe syndrome protein OCRL1.

external link
9.

None (2006) Lowe syndrome.

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10.

Orphanet article

Orphanet ID 123978 external link
11.

NCBI article

NCBI 4952 external link
12.

OMIM.ORG article

Omim 300535 external link
13.

Wikipedia article

Wikipedia EN (OCRL) external link
Update: Aug. 14, 2020
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