FLVCR2

FLVCR2 is a gene that in humans is encoded by the FLVCR2 protein. It is a member of the major facilitator superfamily, a group of proteins that facilitate the transport of certain substances across biological membranes. The FLVCR2 gene is located on the short (p) arm of chromosome 14 at position 22.2.

Function

The FLVCR2 gene provides instructions for making a protein that is found in various tissues throughout the body. This protein is believed to play a critical role in the transport of certain molecules across cell membranes, although its specific function is not well understood. Some studies suggest that the FLVCR2 protein may be involved in the transport of a molecule called heme, which is a component of hemoglobin, the protein in red blood cells that carries oxygen.

Clinical significance

Mutations in the FLVCR2 gene have been associated with a rare condition known as microphthalmia with linear skin defects (MLS) syndrome. This disorder is characterized by eye abnormalities, skin defects along the midline of the body, and other features. The FLVCR2 gene mutations that cause MLS syndrome result in the production of an abnormally short, nonfunctional version of the FLVCR2 protein. The loss of this protein's function disrupts the normal development of several parts of the body, leading to the features of MLS syndrome.

See also

• Major facilitator superfamily
• Microphthalmia
• Heme

External links

• FLVCR2 at NCBI
• FLVCR2 at Genetics Home Reference