{"symbol":"ABCA1","synonyms":["ABC-1","TGD","CERP","HDLDT1"],"name":"ATP-binding cassette, sub-family A (ABC1), member 1","description":"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. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]","ncbiEntrezGeneId":19,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/19","proteins":[{"symbol":"ABCA1_HUMAN","href":"/api/1.0/protein/ABCA1_HUMAN"}],"hgncRootFamilies":[{"name":"ATP binding cassette transporters (ABC)","href":"/api/1.0/gene_family/ATP+binding+cassette+transporters+%28ABC%29"}]}