An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locusShulenin S.a · Schriml L.M.a · Remaley A.T.b · Fojo S.b · Brewer B.b · Allikmets R.c · Dean M.a
aLaboratory of Genomic Diversity, NCI-Frederick, Frederick MD; bNational Heart, Lung and Blood Institute, Bethesda MD; cDepartments of Ophthalmology and Pathology, Columbia University, New York NY (USA) Cytogenet Cell Genet 92:204–208 (2001) (DOI:10.1159/000056903)
We characterized a new human ATP-binding cassette (ABC) transporter gene that is highly expressed in the liver. The gene, ABCG5, contains 13 exons and encodes a 651 amino acid protein. The predicted protein is closely related to the Drosophila white gene and a human gene, ABCG1, which is induced by cholesterol. This subfamily of genes all have a single ATP-binding domain at the N-terminus and a single C-terminal set of transmembrane segments. ABCG5 maps to human chromosome 2p21, between the markers D2S117 and D2S119. The abundant expression of this gene in the liver suggests that the protein product has an important role in transport of specific molecule(s) into or out of this tissue.
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