ABCA1


ABCA1

ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA) is a human protein and gene. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.

PBB_Summary
section_title =
summary_text = 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 (ABCA, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [cite web | title = Entrez Gene: ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=19| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Oram JF |title=ATP-binding cassette transporter A1 and cholesterol trafficking. |journal=Curr. Opin. Lipidol. |volume=13 |issue= 4 |pages= 373–81 |year= 2003 |pmid= 12151852 |doi=
*cite journal | author=Hong SH, Rhyne J, Zeller K, Miller M |title=ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. |journal=Atherosclerosis |volume=164 |issue= 2 |pages= 245–50 |year= 2003 |pmid= 12204794 |doi=
*cite journal | author=Kozak M |title=Emerging links between initiation of translation and human diseases. |journal=Mamm. Genome |volume=13 |issue= 8 |pages= 401–10 |year= 2003 |pmid= 12226704 |doi= 10.1007/s00335-002-4002-5
*cite journal | author=Joyce C, Freeman L, Brewer HB, Santamarina-Fojo S |title=Study of ABCA1 function in transgenic mice. |journal=Arterioscler. Thromb. Vasc. Biol. |volume=23 |issue= 6 |pages= 965–71 |year= 2004 |pmid= 12615681 |doi= 10.1161/01.ATV.0000055194.85073.FF
*cite journal | author=Singaraja RR, Brunham LR, Visscher H, "et al." |title=Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. |journal=Arterioscler. Thromb. Vasc. Biol. |volume=23 |issue= 8 |pages= 1322–32 |year= 2004 |pmid= 12763760 |doi= 10.1161/01.ATV.0000078520.89539.77
*cite journal | author=Nofer JR, Remaley AT |title=Tangier disease: still more questions than answers. |journal=Cell. Mol. Life Sci. |volume=62 |issue= 19-20 |pages= 2150–60 |year= 2005 |pmid= 16235041 |doi= 10.1007/s00018-005-5125-0
*cite journal | author=Yokoyama S |title=ABCA1 and biogenesis of HDL. |journal=J. Atheroscler. Thromb. |volume=13 |issue= 1 |pages= 1–15 |year= 2006 |pmid= 16505586 |doi=
*cite journal | author=Schmitz G, Schambeck CM |title=Molecular defects in the ABCA1 pathway affect platelet function. |journal=Pathophysiol. Haemost. Thromb. |volume=35 |issue= 1-2 |pages= 166–74 |year= 2006 |pmid= 16855366 |doi= 10.1159/000093563

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