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OCRL gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

OCRL gene

The OCRL gene provides instructions for making an enzyme essential for cellular transport and kidney function, with mutations linked to Dent disease 2 and Lowe syndrome.

Normal Function

The OCRL gene provides instructions for making the enzyme OCRL, which is present in cells throughout the body. OCRL is part of a larger group of enzymes that modify fat (lipid) molecules known as membrane phospholipids. Phospholipids help form the basic structure of cell membranes.

OCRL is found in several areas within cells. It is concentrated in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other molecules and sends them to their proper locations. OCRL is also found in endosomes, specialized compartments that help transport proteins and other molecules within the cell. The trans-Golgi network and endosomes play an important role in endocytosis, which is the process of transporting proteins from the outer cell membrane to the inside of the cell.

Endocytosis is especially important in proximal tubular cells, which are structures found in the kidneys. They help reabsorb proteins and other nutrients into the bloodstream. OCRL plays a key role in the kidneys' ability to reabsorb proteins and important nutrients.

Recent research suggests that OCRL is also involved in the formation of certain types of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are important for the structure and function of many types of cells, including cells in the eyes and kidneys.

Health Conditions Related to Genetic Changes

Dent disease

Changes in the OCRL gene can cause a type of Dent disease called Dent disease 2. Genetic changes that cause disease are called pathogenic variants. Dent disease 2 occurs almost exclusively in males, and affected individuals have chronic kidney disease that can lead to kidney failure. Some affected individuals also have developmental delays, mild intellectual disabilities, and a clouding of the lens of the eye that typically does not cause significant visual impairment. Some researchers consider Dent disease 2 to be a mild version of Lowe syndrome.

Pathogenic variants in the OCRL gene cause cells to produce a version of the enzyme that does not function properly. These changes likely disrupt endocytosis, which impairs the reabsorption of proteins in the proximal tubules of the kidneys. The loss of functional OCRL may also affect cell signaling by altering the structure or function of cilia. Disruption of these important cell processes impairs kidney function, leading to the loss of proteins in the urine (proteinuria) and the chronic kidney disease seen in people with Dent disease 2.

Lowe syndrome

Pathogenic variants in the OCRL gene can also cause Lowe syndrome, a condition that affects the eyes, brain, and kidneys. As with Dent disease 2, Lowe syndrome occurs almost exclusively in males.

Some pathogenic variants associated with Lowe syndrome cause cells to make a version of the enzyme that does not function properly, while others prevent the production of any functional enzyme. These changes appear to impair endocytosis and the structure and function of cilia. It is unknown why some OCRL gene variants cause Lowe syndrome and others cause Dent disease 2.

Other Names for This Gene

  • Dent disease 2
  • Dent-2
  • OCRL1

Frequently Asked Questions

Managing proteinuria often involves a low‑protein diet tailored by a dietitian, use of angiotensin‑converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) to reduce protein leakage, and ensuring adequate hydration. Calcium and vitamin D supplementation may be needed to counteract low blood calcium levels. Regular monitoring of kidney function and electrolyte balance is essential to adjust therapy.
Yes, while both involve OCRL mutations, Lowe syndrome typically presents with additional eye (corneal clouding), brain (cognitive impairment), and hand (clenched‑hand) abnormalities, often leading to more aggressive management. Dent disease 2 usually affects only the kidneys and sometimes the eyes. Treatment plans for Lowe syndrome often include multidisciplinary care (ophthalmology, neurology, nephrology), whereas Dent disease 2 focuses on kidney‑specific interventions and monitoring for progression to chronic kidney disease.
Parents should watch for persistent low urine output, swelling in the legs or around the eyes, frequent urinary tract infections, and a noticeable loss of muscle mass or growth delay. A key sign is protein in the urine (proteinuria) that does not improve with standard treatments, especially when accompanied by low levels of calcium in the blood (hypocalcemia). Early detection can help manage complications before kidney damage progresses.
Confirmation typically starts with a blood test for DNA sequencing of the OCRL gene, often performed through a targeted next‑generation sequencing panel for kidney disorders. If a mutation is found, a urine test for protein and calcium levels, as well as kidney imaging (ultrasound or MRI), may be ordered to assess kidney structure and function. Genetic counseling is recommended to interpret results and discuss inheritance.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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