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. Proximal tubules are structures that are 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.
Other Names
Dent disease 2; Dent-2; OCRL1
Related Genetics Topics
Identifiers
- NCBI Gene: 4952
- OMIM: 300535
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
