ABCA 1

  • OMIM: 600 046
  • UniProt: O95477
  • MGI: 99607

ABCA 1 ( Member # 1 of the human ABC transporter sub - family ABCA ) is a human protein and gene. The protein is responsible for the membrane surface, where this so-called lipid domains form, which result from high-density lipoproteins (HDL) for the transport of cholesterol and phospholipids from the cell interior by various peripheral cells such as endothelial cells and macrophages located. It is a transport protein. Mutations of the ABCA1 gene have been described in the case of Tangier disease and hereditary HDL deficiency.

The protein encoded by this gene membrane protein is a member of the superfamily of ABC transporters. The ABC transporters move molecules through various extra-and intracellular membranes. The ABC genes are divided into seven different families ( ABCA, MDR / TAP, MRP, ALD, OABP, GCN20, White). The members of the ABCA subfamily are the only ABC subfamily, which are formed exclusively in multicellular eukaryotes. The general transport equation for ABC transporter efflux is:

It is active transport, is consumed in the ATP. For the function of ABCA1 also essential is the phospholipid transfer protein ( PLTP ).

Human Genome Organisation Mouse Genome Informatics Euteleostomi Entrez Ensembl National Center for Biotechnology Information Transportprotein ATP-binding cassette transporter Phospholipid-Transferprotein Digital Object Identifier
22893
de