The official name of ABCG5 is ATP-binding cassette, sub-family G (WHITE), member 5.The ABCG5 gene provides instructions for making a sterolin1 protein OF ABC group proteins. Sterolin-1 and –2 are two ‘half’ adenosine triphosphate binding (ATP) cassette (ABC) transporters which found to be indispensable for the regulation of sterol absorption and excretion.
Location:
ABCG5 gene is present in human chromosome 2 and ts coded from region 43893115 to 43919462 complement with 13 exons, the cytogenetic location 2p21.
Disease
Mutations in both alleles of either ABCG5 or ABCG8 in the human results in sitosterolemia. Sitosterolemia (also known as phytosterolemia) is a rare autosomal recessively inherited lipid metabolic disorder characterized by the presence of tendon xanthomas, premature coronary artery disease and atherosclerotic disease, hemolytic episodes, arthralgias and arthritis. The hallmark of sitosterolemia is diagnostically elevated levels of plant sterols in the plasma.
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