Words similar to half-transporters
Example sentences for: half-transporters
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Studies have shown that the sitosterolemic patients hyperabsorb all sterols (cholesterol and phytosterols) and fail to excrete phytosterols into bile [ 3 4 5 6 7 ] . Positional mapping of the STSL locus to human chromosome 2p21 led to the identification of two genes, ATP binding cassette (ABC) half-transporters G5 and G8 that were mutated in affected individuals [ 8 9 10 11 12 ] . The protein products of these two genes (sterolin-1 and sterolin-2 respectively) are thought to form heterodimers to constitute a functional transporter, based primarily on the genetic evidence that affected individuals are either completely mutated in sterolin-1 or sterolin-2, but not both [ 12 ] . More recently, evidence from in vitro expression of these proteins has been presented that these two proteins co-immunoprecipitate, supporting this conclusion [ 13 ] . ABCG5 and ABCG8 appear to be present in all mammalian genomes examined to date and are highly conserved between species, indicating that these genes may have a similar function in other species.
ABCG5 and ABCG8 are two genes located adjacently in a head-to-head configuration on human chromosome 2p21, encoding for two half-transporters, sterolin 1 and sterolin 2 respectively [ 9 10 12 ] . Mutations in either of these genes causes sitosterolemia, characterized by hyperabsorption of phytosterols, reduced excretion of sterols into the bile and very elevated levels of plasma plant sterol levels.