Tangier Disease or TD is a genetic disorder of cholesterol transport. Tangier disease is named after the island of Tangier located off the coast of Virginia. TD was first discovered on a five year old who was an inhabitant of the Tangier island. The five year old had orange tonsils and very low levels of HDL, and an enlarged liver and spleen. TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. People diagnosed with TD are not able to eliminate cholesterol from cells, which then causes the cholesterol to buildup in the tonsils and other organs.
The gene name for Tangier Disease is ABCA1 and the gene ID is 19.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.
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Here is a link to more information about the genetics of Tangier Disease that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Tangier_Disease/360. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
ReplyDeleteABCA1, in particular, transports cholesterol across the membrane to help remove it from cells.
ReplyDeleteHere is a link to more information about the genetics of Tangier Disease that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Tangier_Disease/360. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
ReplyDelete