ABCA1
From Wikipedia, the free encyclopedia
ATP-binding cassette, sub-family A (ABC1), member 1
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Identifiers | ||||||||||||||
Symbol(s) | ABCA1; ABC-1; ABC1; CERP; FLJ14958; HDLDT1; TGD | |||||||||||||
External IDs | OMIM: 600046 MGI: 99607 HomoloGene: 21130 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 19 | 11303 | ||||||||||||
Ensembl | ENSG00000165029 | ENSMUSG00000015243 | ||||||||||||
Uniprot | O95477 | Q8BPY1 | ||||||||||||
Refseq | NM_005502 (mRNA) NP_005493 (protein) |
NM_013454 (mRNA) NP_038482 (protein) |
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Location | Chr 9: 106.58 - 106.73 Mb | Chr 4: 53.05 - 53.18 Mb | ||||||||||||
Pubmed search | [1] | [2] |
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.
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.[1]
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[edit] References
[edit] Further reading
- Oram JF (2003). "ATP-binding cassette transporter A1 and cholesterol trafficking.". Curr. Opin. Lipidol. 13 (4): 373–81. PMID 12151852.
- Hong SH, Rhyne J, Zeller K, Miller M (2003). "ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.". Atherosclerosis 164 (2): 245–50. PMID 12204794.
- Kozak M (2003). "Emerging links between initiation of translation and human diseases.". Mamm. Genome 13 (8): 401–10. doi: . PMID 12226704.
- Joyce C, Freeman L, Brewer HB, Santamarina-Fojo S (2004). "Study of ABCA1 function in transgenic mice.". Arterioscler. Thromb. Vasc. Biol. 23 (6): 965–71. doi: . PMID 12615681.
- Singaraja RR, Brunham LR, Visscher H, et al. (2004). "Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.". Arterioscler. Thromb. Vasc. Biol. 23 (8): 1322–32. doi: . PMID 12763760.
- Nofer JR, Remaley AT (2005). "Tangier disease: still more questions than answers.". Cell. Mol. Life Sci. 62 (19-20): 2150–60. doi: . PMID 16235041.
- Yokoyama S (2006). "ABCA1 and biogenesis of HDL.". J. Atheroscler. Thromb. 13 (1): 1–15. PMID 16505586.
- Schmitz G, Schambeck CM (2006). "Molecular defects in the ABCA1 pathway affect platelet function.". Pathophysiol. Haemost. Thromb. 35 (1-2): 166–74. doi: . PMID 16855366.
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