While the complete 3D-structure of ABCA1 remains relatively unknown, there has been some determination of the c-terminus. With cholesterol as its substrate, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a member of the ABCA subfamily. ABC genes are divided into seven distinct subfamilies (ABCA, MDR/TAP, MRP, ALD, OABP, GCN20, White). ABC proteins transport various molecules across extra- and intracellular membranes.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. Tangier disease has been identified in nearly 100 patients worldwide, and patients have a broad range of biochemical and clinical phenotypes as over 100 different mutations have been identified in ABCA1 resulting in the disease. This group received an award from the American Heart Association for their discovery. Subsequent sequencing of the gene identified the mutations. They showed cell lines from patients with Tangier's disease showed differential regulation of the ABCA1 gene. Richard Lawn's group at CV Therapeutics in Palo Alto, CA used cDNA microarrays, which were relatively new at the time, to assess gene expression profiles from cell lines created from normal and affected individuals. Gerd Schmitz's group in Germany and Michael Hayden's group in British Columbia were using standard genetics techniques and DNA from family pedigrees to locate the mutation. It was discovered that a mutation in the ABCA1 protein is responsible for causing Tangier disease by several groups in 1998. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis. positive regulation of high-density lipoprotein particle assemblyĪTP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA), also known as the cholesterol efflux regulatory protein (CERP) is a protein which in humans is encoded by the ABCA1 gene.cellular response to low-density lipoprotein particle stimulus.adenylate cyclase-activating G protein-coupled receptor signaling pathway.high-density lipoprotein particle assembly.regulation of high-density lipoprotein particle assembly.positive regulation of cholesterol efflux.apolipoprotein A-I-mediated signaling pathway.negative regulation of macrophage derived foam cell differentiation.cellular response to lipopolysaccharide.negative regulation of cholesterol storage.regulation of Cdc42 protein signal transduction.G protein-coupled receptor signaling pathway.
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