SHORT COMMUNICATIONA New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
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2018, Molecular Genetics and MetabolismCitation Excerpt :ABCA1 is a member of the large family (48 members in humans) of ATP binding cassette (ABC) transporters of a variety of substrates, including lipids, sterols and metabolic products across both intracellular and extracellular membranes [12–14]. Genetic variations in ABC genes have been shown to be the cause of at least 13 genetic diseases [6,15–28]. The ABCA1 gene encodes the key protein regulating the efflux of lipids from peripheral cells to HDL, which is the first step in the reverse cholesterol transport pathway [4,29–32].
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