OCRL [SEP] chromosome
OCRL
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the "OCRL" gene located on the X chromosome in humans.
This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.
Mutation in this gene are associated with oculocerebrorenal syndrome and also with Dent's disease.
External links.
- GeneReviews/NCBI/NIH/UW entry on Lowe Syndrome
- PDBe-KB provides an overview of all the
Dent disease 2 (nephrolithiasis type 2) is associated with the "OCRL" gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in "OCRL".
Diagnosis.
Diagnosis is based on genetic study of CNCL5 gene
Treatment.
As of today, no agreed-upon treatment of Dent's disease is known and no therapy has been formally accepted. Most treatment measures are supportive in nature:
- Thiazide diuretics (i.e. hydrochlorothiazide) have been used