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ocrl
- The OCRL gene provides instructions for making an enzyme that is present in cells throughout the body. This enzyme is part of a larger group of enzymes that ...
- ... 1 in 500,000 people. Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that ... controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances ...
- ... can result from mutations in the CLCN5 or OCRL gene. Mutations in the CLCN5 gene cause Dent ... all cases of Dent disease. Mutations in the OCRL gene cause Dent disease 2, which accounts for ...