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Reviewed November 2013
What is the official name of the OCRL gene?
The official name of this gene is “oculocerebrorenal syndrome of Lowe.”
OCRL is the gene's official symbol. The OCRL gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the OCRL gene?
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 modify fat (lipid) molecules known as membrane phospholipids. These molecules form the basic structure of cell membranes. Specifically, the OCRL enzyme regulates the levels of a membrane phospholipid called phosphatidylinositol 4,5-bisphosphate.
The OCRL enzyme 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 intended destinations inside or outside the cell. The OCRL enzyme is also found on endosomes, specialized compartments that are formed at the cell surface to carry proteins and other molecules to their destinations within the cell.
By controlling the level of phosphatidylinositol 4,5-bisphosphate, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane and chemical signaling between cells. The enzyme may also be involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.
Recent research suggests that the OCRL enzyme is found in cell structures called primary cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including cells in the brain, kidneys, and liver. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). Studies suggest that the OCRL enzyme may play a role in the formation, function, and maintenance of cilia.
How are changes in the OCRL gene related to health conditions?
Where is the OCRL gene located?
Cytogenetic Location: Xq25
Molecular Location on the X chromosome: base pairs 129,532,739 to 129,592,555
The OCRL gene is located on the long (q) arm of the X chromosome at position 25.
More precisely, the OCRL gene is located from base pair 129,532,739 to base pair 129,592,555 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OCRL?
You and your healthcare professional may find the following resources about OCRL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the OCRL gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding OCRL?
actin ; cataract ; cell ; cell membrane ; chronic ; cytoskeleton ; disability ; endosomes ; enzyme ; gene ; hypotonia ; kidney ; kidney stones ; lipid ; muscle tone ; perception ; phosphatase ; phospholipid ; phospholipids ; protein ; proteinuria ; syndrome ; trans-Golgi network
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.