
ABCA1
Reported by creativebiomart | April 25th, 2024 @ 06:38 PM
What is
abca1
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;
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