ABCA1基因表達質粒慢病毒載體熒光質粒

RefSeq  NM_005502.2, NM_005502.3, NP_005493.2
RefSeq Size  10515 bp
RefSeq ORF  6786 bp
Locus ID  19
Cytogenetics  9q31.1
Protein Families  Druggable Genome, Transmembrane
Protein Pathways  ABC transporters
MW  254.3 kDa
Gene Summary  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.

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