Tangier disease

Definition:

Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.

References:

[1]. J F Oram, et al. Tangier disease and ABCA1. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):321-30. [Content Brief]

[2]. J-R Nofer, et al. Tangier disease: still more questions than answers. Cell Mol Life Sci. 2005 Oct;62(19-20):2150-60. [Content Brief]

[3]. John F Oram, et al. Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. Trends Mol Med. 2002 Apr;8(4):168-73. [Content Brief]

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