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abca1

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Official Full Name
ATP-binding cassette, sub-family A (ABC1), member 1
Background
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangiers disease and familial high-density lipoprotein deficiency.
Synonyms
ABCA1; ATP-binding cassette, sub-family A (ABC1), member 1; ABC1, HDLDT1; ATP-binding cassette sub-family A member 1; Tangier disease; TGD; membrane-bound; ATP-binding cassette transporter 1; ATP-binding cassette transporter A1; cholesterol efflux regulat; cholesterol efflux regulatory protein; ABC1; CERP; ABC-1; HDLDT1

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