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Encyclopedia results for ABCA1

ABCA1





Encyclopedia results for ABCA1

  1. XPC (gene)

    PBB geneid 7508 Xeroderma pigmentosum, complementation group C , also known as XPC , is a protein which in humans is encoded by the XPC gene . XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair . ref name entrez cite web title Entrez Gene XPC xeroderma pigmentosum, complementation group C url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 7508 accessdate ref Function This gene encodes a component of the nucleotide excision repair NER pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum XP A G and V, Cockayne syndrome CS A and B, and IBIDS syndrome trichothiodystrophy TTD group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. ref name entrez Clinical significance Mutations in this gene or some other NER components result in Xeroderma pigmentosum , a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. ref name entrez Interactions XPC gene has been shown to Protein protein interaction interact with ABCA1 , ref name pmid12505994 cite journal last Shimizu first Yuichiro authorlink coauthors Iwai Shigenori, Hanaoka Fumio, Sugasawa Kaoru year 2003 month January title Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase journal EMBO J. volume 22 issue 1 pages 164 73 publisher location England issn 0261 4189 pmid 12505994 doi 10.1093 emboj cdg016 bibcode oclc id url language format accessdate laysummary laysource laydate quote pmc 140069 ref CETN2 ref name pmid11279143 cite journal last Araki first M authorlink coauthors Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J, Ohkuma Y, Hanaoka F year 2001 month June title Centrosome protein centrin 2 caltractin 1 is part of the xeroderma pi ...   more details



  1. FLOT1

    al. title Association of ABCA1 with syntaxin 13 and flotillin 1 and enhanced phagocytosis in tangier ...   more details



  1. STX12

    Sato first9 Hiroyuki cite journal author Bared SM title Association of ABCA1 with Syntaxin 13 and Flotillin ...   more details



  1. High-density lipoprotein

    up cholesterol, carried internally, from cells by interaction with the ABCA1 ATP binding cassette transporter A1 ABCA1 . A Blood plasma plasma enzyme called lecithin cholesterol acyltransferase ...   more details



  1. Hurricane Omar (2008)

    and only necessary workers remained at the refinery. ref name ABCA1 On Sint Maarten , officials advised ... Rico . Eighteen shelters were open on the eastern part of the island. ref name ABCA1 cite web url http ...   more details



  1. FADD

    Expert subject Molecular and Cellular Biology date November 2008 PBB geneid 8772 This article is about molecular biology. For other uses, see Fadd disambiguation . Fas Associated protein with Death Domain FADD is an adaptor molecule that bridges the FasR Fas receptor , and other death receptors, to caspase 8 through its death domain to form the death inducing signaling complex DISC during apoptosis . The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. NOTOC Signalling PBB Summary section title summary text The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C terminal death domain, this protein can be recruited by TNFRSF6 Fas receptor, tumor necrosis factor receptor , TNFRSF25, and TNFSF10 TRAIL receptor, and, thus, it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N terminal death effector domain effector domain ref cite journal author Eberstadt M, et al. title NMR structure and mutagenesis of the FADD Mort1 death effector domain year 1998 journal Nature volume 392 pages 941 5 doi 10.1038 31972 pmid 9582077 issue 6679 ref see structural image on the right side of this protein, which allows it to recruit caspase 8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. ref cite web title Entrez Gene FADD Fas TNFRSF6 associated via death domain url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 8772 accessdate ref Image Fas signaling.jpg thumbnail center 500px Signaling pathway of Tumor necrosis factor alpha TNF R1. Dashed grey lines represent multiple steps Interactions FADD has been shown to Protein protein interaction interact with ABCA1 , ref name pmid12235128 cite journal last Buechler first Chri ...   more details



  1. Cardiolipin

    cite journal author Oram J. F. title Tangier disease and ABCA1 journal Biochim.Biophys. Acta. year 2000 ...   more details



  1. Liver X receptor

    involved in cholesterol homeostasis like ABCA1 which is defective in Tangier disease . A common ...   more details



  1. Lanosterol synthase

    Selective up regulation of LXR regulated genes ABCA1, ABCG1, and APOE in macrophages through increased ...   more details



  1. Hormone replacement therapy (menopause)

    , Panjehpour M, Movahedian A title Increased leukocyte ABCA1 gene expression in post menopausal women ...   more details



  1. Morpheein

    pmid16905770 Kotaka, Ren. ref ATPase of the ABCA1 transporter Homo sapiens dimer, tetramer ref name .... Chimini title Transition from dimers to higher oligomeric forms occurs during the ATPase cycle of the ABCA1 ...   more details



  1. Macular degeneration

    LIPC , cholesterol ester transferase CETP , lipoprotein lipase LPL and the ABC binding cassette A1 ABCA1 ...   more details



  1. ATP-binding cassette transporter

    Infobox protein family Symbol ABC tran Name ABC Transporter image 1l7v opm.gif width caption Vitamin B sub 12 sub transporter, BtuCD PDB PDBe 1l7v Pfam PF00005 Pfam clan InterPro IPR003439 SMART PROSITE PDOC00185 MEROPS SCOP 1b0u TCDB 3.A.1 OPM family 17 OPM protein 3g5u CAZy CDD Image 3b60.gif thumb 300 right Lipid flippase MsbA Image 2onk.gif thumb 300 right Molybdate transporter AB sub 2 sub C sub 2 sub complex, open state ATP binding Gene cassette cassette transporters ABC transporter are members of a protein superfamily that is one of the largest and most ancient families with representatives in all extant taxon extant Phylum phyla from prokaryote s to humans. ref name Jones2004 cite journal author Jones PM, George AM title The ABC transporter structure and mechanism perspectives on recent research journal Cell Mol Life Sci. volume 61 issue 6 pages 682 99 year 2004 month Mar pmid 15052411 doi 10.1007 s00018 003 3336 9 ref ref name Ponte SucreA cite book author Ponte Sucre, A editor year 2009 title ABC Transporters in Microorganisms publisher Caister Academic Press isbn 978 1 904455 49 3 ref ABC transporters are transmembrane protein s that utilize the energy of adenosine triphosphate ATP hydrolysis to carry out certain biological processes including translocation of various substrates across membranes and non transport related processes such as translation of RNA and DNA repair. ref name davidson cite journal doi 10.1128 MMBR.00031 07 author Davidson A.L., Dassa E., Orelle C., Chen J. year 2008 title Structure, function, and evolution of bacterial ATP binding cassette systems journal Microbiol. Mol. Biol. Rev. volume 72 issue 2 pages 317 364 pmid 18535149 pmc 2415747 ref ref name goffeau Goffeau, A. B. de Hertogh and P.V. Baret. 2004. ABC Transporters. In Encyclopedia of Biological Chemistry. Vol. 1, 1 5. ref They transport a wide variety of substrates across extra and intracellular cell membrane membranes , including metabolism metabolic products, lipid s and ...   more details



  1. List of OMIM disorder codes

    context date January 2011 This is a list of disorder codes in the Online Mendelian Inheritance in Man OMIM database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information . 17,20 lyase deficiency, isolated OMIM2 202110 CYP17A1 17 alpha hydroxylase 17,20 lyase deficiency OMIM2 202110 CYP17A1 17 beta hydroxysteroid dehydrogenase X deficiency OMIM2 300438 HSD17B10 2 methylbutyrylglycinuria OMIM2 610006 ACADSB 3 hydroxyacyl coa dehydrogenase deficiency OMIM2 231530 HADHSC 3 hydroxyisobutryl CoA hydrolase deficiency OMIM2 250620 HIBCH 3 M syndrome OMIM2 273750 CUL7 3 Methylcrotonyl CoA carboxylase 1 deficiency OMIM2 210200 MCCC1 3 Methylcrotonyl CoA carboxylase 2 deficiency OMIM2 210210 MCCC2 3 methylglutaconic aciduria, type I OMIM2 250950 AUH gene AUH 3 methylglutaconic aciduria, type III OMIM2 258501 OPA3 3 methylglutaconic aciduria, type V OMIM2 610198 DNAJC19 46XX true true hermaphroditism OMIM2 400045 SRY 46XY complete gonadal dysgenesis OMIM2 233420 DHH hedgehog DHH 46XY complete gonadal dysgenesis OMIM2 400044 SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure OMIM2 612965 NR5A1 46XY gonadal dysgenesis, complete, CBS2 related OMIM2 613080 CBX2 gene CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy OMIM2 607080 DHH hedgehog DHH 5 fluorouracil toxicity OMIM2 274270 DPYD 6 mercaptopurine sensitivity OMIM2 610460 TPMT Aarskog Scott syndrome OMIM2 305400 FGD1 ABCD syndrome OMIM2 600501 EDNRB Abetalipoproteinemia OMIM2 200100 MTP gene MTP ACAD9 deficiency OMIM2 611126 ACAD9 Acampomelic campomelic dysplasia OMIM2 114290 SOX9 Achalasia Addisonianism Alacrimia syndrome OMIM2 231550 AAAS gene AAAS Acheiropody OMIM2 200500 LMBR1 Achondrogenesis Ib OMIM2 600972 SLC26A2 Achondrogenesis type 1A OMIM2 200600 TRIP11 Achondrogenesis hypochondrogenesis type 2 OMIM2 200610 COL2A1 Achondroplasia OMIM2 100800 FGFR3 Achro ...   more details




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