PBB geneid 19 ATP 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 . ref name pmid8088782 cite journal author Luciani MF, Denizot F, Savary S, Mattei ... s Disease ABCA1 was discovered as the mutation causing Tangier s Disease by several groups in 1998 ... ref They showed cell lines from patients with Tangier s disease showed differential regulation of the ABCA1 ... Gene ABCA1 ATP binding cassette, sub family A ABC1 , member 1 url http www.ncbi.nlm.nih.gov sites entrez ... 00041433 200104000 00006 url ref Physiological role ABCA1 mediates the efflux of cholesterol and phospholipid ... the ABCA1 transporter s expression or its posttranslational modification are also molecules that are involved ... adenosine monophosphate . ref name pmid16505586 cite journal author Yokoyama S title ABCA1 and biogenesis ... lipoprotein deficiency. ABCA1 has been shown to be reduced in Tangier disease which features physiological ... journal author Oram JF, Vaughan AM title ABCA1 mediated transport of cellular cholesterol and phospholipids ... WP430 highlight ABCA1 See also ATP binding cassette transporter Interactions ABCA1 has been ... in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein ... cite journal author Tam SP, Mok L, Chimini G, Vasa M, Deeley RG title ABCA1 mediates high affinity ... title ABCA1 Alabama a novel variant associated with HDL deficiency and premature coronary artery disease ... Study of ABCA1 function in transgenic mice. journal Arterioscler. Thromb. Vasc. Biol. volume 23 ... impact of variations in the ABCA1 gene. journal Arterioscler. Thromb. Vasc. Biol. volume ... 5125 0 cite journal author Yokoyama S title ABCA1 and biogenesis of HDL. journal J. Atheroscler. Thromb ... CM title Molecular defects in the ABCA1 pathway affect platelet function. journal Pathophysiol. Haemost ... ABC transporters Lipoproteins Category ABC transporters de ABCA 1 nl ABCA1 DEFAULTSORT Abca1 ... more details
ABC1 is the main television channel from the Australian Broadcasting Corporation in Australia. ABC1 may also refer to ABC1 United Kingdom , a television channel in the United Kingdom which closed in 2007 ABC1, a group of NRS social grade s used in the United Kingdom to refer to the middle classes ABCA1 , a protein which in humans is encoded by the ABCA1 gene See also U.S. British Staff Conference ABC 1 , a military plan during World War II Letter NumberCombDisambig DEFAULTSORT Abc1 ... more details
Infobox disease Name Hypoalphalipoproteinemia Image Caption DiseasesDB ICD10 ICD10 E 78 6 e 70 ICD9 ICD9 272.5 ICDO OMIM 604091 MedlinePlus eMedicineSubj med eMedicineTopic 3368 MeshID D052456 Hypoalphalipoproteinemia is a high density lipoprotein deficiency, inherited in an autosomal dominant manner. ref OMIM 604091 ref Image autodominant.jpg thumb right Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance . It can be associated with LDL receptor . ref name pmid16115486 cite journal author Pisciotta L, Calabresi L, Lupattelli G, et al. title Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL R and LCAT genes journal Atherosclerosis volume 182 issue 1 pages 153 9 year 2005 month September pmid 16115486 doi 10.1016 j.atherosclerosis.2005.01.048 url http linkinghub.elsevier.com retrieve pii S0021 9150 05 00117 6 ref Associated regions and genes include class wikitable Name OMIM Locus Candidates HDLCQ1 OMIM2 606613 9p ABCA1 Tangier disease ref name pmid17372331 cite journal author Soro Paavonen A, Naukkarinen J, Lee Rueckert M, et al. title Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL journal J. Lipid Res. volume 48 issue 6 pages 1409 16 year 2007 month June pmid 17372331 doi 10.1194 jlr.P600012 JLR200 url http www.jlr.org cgi pmidlookup?view long&pmid 17372331 ref HDLCQ2 OMIM2 607053 8q23 HDLCQ3 OMIM2 607687 16q24.1 LCAT Lecithin cholesterol acyltransferase deficiency HDLCQ4 OMIM2 610239 4q32 HDLD3 OMIM2 605201 11q23.3 APOA1 Niacin is sometimes prescribed to raise HDL levels. References reflist Lipidemias Category Autosomal dominant disorders genetic disorder stub ... more details
Unreferenced date May 2010 Lead missing date May 2010 Reverse cholesterol transport Cholesterol from non hepatic peripheral tissues is transferred to High density lipoprotein HDL by the ABCA1 ATP binding cassette transporter . ApoA 1 acts as an acceptor, and the phospholipid component of HDL acts as a sink for the mobilised cholesterol. The cholesterol is converted to cholesteryl ester s by the enzyme LCAT lecithin cholesterol acyltransferase . The cholesteryl esters can be transferred to other lipoprotein s such as Low density lipoprotein LDL , and these lipoproteins can be taken up by the liver through its LDL receptor s. However, the receptor SR B1 SCARB1 scavenger receptor class B1 present on the liver cells plasma membrane s mediates most of the liver s uptake of cholesteryl esters from HDL in the absence of uptake of apolipoprotein s. The overall process by which HDL removes cholesterol from extrahepatic tissues and returns it to the liver is called reverse cholesterol transport. Once in the liver, the cholesteryl esters are converted to cholesterol and enter the general pool. Therefore, the liver can eliminate cholesterol from the body by secreting unesterified cholesterol into the bile or by converting cholesterol to bile acid s. Uptake of HDL sub 2 sub is mediated by hepatic lipase , a special form of lipoprotein lipase found only in the liver. Hepatic lipase activity is increased by androgen s and decreased by estrogen s, which may account for higher concentrations of HDL sub 2 sub in women. DEFAULTSORT Reverse Cholesterol Transport Category Biochemistry ... more details
plaques. It is believed to act at ABCA1 . ref name pmid15514211 cite journal author Favari E, Zanotti I, Zimetti F, Ronda N, Bernini F, Rothblat GH title Probucol inhibits ABCA1 mediated ... more details
binding cassette transporter A1 ABCA1 and ABCG1 gene expression and a modulator of cellular lipid efflux ... lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR independent pathway. journal ... more details
T, Lee JH, et al. title Association studies of cholesterol metabolism genes CH25H, ABCA1 and CH24H ... of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer s disease in Chinese ... more details
Human ABCA1 contains a large amino terminal extracellular domain homologous to an epitope of Sj gren ... density lipoprotein generated by ABCA1 and ABCA7. journal J. Lipid Res. volume 46 issue 8 pages ... more details
PBB geneid 7753 Zinc finger protein 202 is a protein that in humans is encoded by the ZNF202 gene . ref name pmid9790754 cite journal author Monaco C, Helmer Citterich M, Caprini E, Vorechovsky I, Russo G, Croce CM, Barbanti Brodano G, Negrini M title Molecular cloning and characterization of ZNF202 a new gene at 11q23.3 encoding testis specific zinc finger proteins journal Genomics volume 52 issue 3 pages 358 62 year 1998 month Dec pmid 9790754 pmc doi 10.1006 geno.1998.5419 ref ref name entrez cite web title Entrez Gene ZNF202 zinc finger protein 202 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 7753 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Scanlan MJ, Gordan JD, Williamson B, et al. title Antigens recognized by autologous antibody in patients with renal cell carcinoma. journal Int. J. Cancer volume 83 issue 4 pages 456 64 year 1999 pmid 10508479 doi 10.1002 SICI 1097 0215 19991112 83 4 456 AID IJC4 3.0.CO 2 5 cite journal author Schumacher C, Wang H, Honer C, et al. title The SCAN domain mediates selective oligomerization. journal J. Biol. Chem. volume 275 issue 22 pages 17173 9 year 2000 pmid 10747874 doi 10.1074 jbc.M000119200 cite journal author Wagner S, Hess MA, Ormonde Hanson P, et al. title A broad role for the zinc finger protein ZNF202 in human lipid metabolism. journal J. Biol. Chem. volume 275 issue 21 pages 15685 90 year 2000 pmid 10748193 doi 10.1074 jbc.M910152199 cite journal author Porsch Ozcurumez M, Langmann T, Heimerl S, et al. title The zinc finger protein 202 ZNF202 is a transcriptional repressor of ATP binding cassette transporter A1 ABCA1 and ABCG1 gene expression and a modulator of cellular lipid efflux. journal J. Biol. Chem. volume 276 issue 15 pages 12427 33 year 2001 pmid 112790 ... more details
PBB geneid 114882 Oxysterol binding protein related protein 8 is a protein that in humans is encoded by the OSBPL8 gene . ref name pmid1735225 cite journal author Pritchett JW title Longitudinal growth and growth plate activity in the lower extremity journal Clin Orthop Relat Res volume issue 275 pages 274 9 year 1992 month Mar pmid 1735225 pmc doi ref ref name pmid17991739 cite journal author Yan D, Mayranpaa MI, Wong J, Perttila J, Lehto M, Jauhiainen M, Kovanen PT, Ehnholm C, Brown AJ, Olkkonen VM title OSBP related protein 8 ORP8 suppresses ABCA1 expression and cholesterol efflux from macrophages journal J Biol Chem volume 283 issue 1 pages 332 40 year 2007 month Dec pmid 17991739 pmc doi 10.1074 jbc.M705313200 ref ref name entrez cite web title Entrez Gene OSBPL8 oxysterol binding protein like 8 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 114882 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This gene encodes a member of the oxysterol binding protein OSBP family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N terminal pleckstrin homology domain and a highly conserved C terminal OSBP like sterol binding domain. Two transcript variants encoding different isoforms have been found for this gene. ref name entrez cite web title Entrez Gene OSBPL8 oxysterol binding protein like 8 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 114882 accessdate ref References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Nakajima D, Okazaki N, Yamakawa H, et al. title Construction of expression ready cDNA clones for KIAA genes manual curation of 330 KIAA cDNA clones. journal DNA Res. volume 9 issue 3 pages 99 106 year 2003 pmid 12168954 doi 10.1093 dnares 9.3.99 cite journal author Nagase T, Kikuno R, Ishi ... more details
SignSymptom infobox Name Lymphadenopathy ICD10 ICD10 I 88 i 80 , ICD10 L 04 l 00 , ICD10 R 59 1 r 50 ICD9 ICD9 289.1 ICD9 289.3 , ICD9 683 , ICD9 785.6 ICDO Image Lymphadanopathy.JPG Caption Cervical lymphadenopathy in someone with mononucleosis OMIM MedlinePlus eMedicineSubj ped eMedicineTopic 1333 DiseasesDB 22225 MeshID D008206 Lymphadenopathy is a term meaning disease of the lymph nodes . ref DorlandsDict five 000061922 lymphadenopathy ref It is, however, almost synonymously used with swollen enlarged lymph nodes . It could be due to infection , auto immune disease, or malignancy . Inflammation of a lymph node is called lymphadenitis . ref DorlandsDict five 000061907 lymphadenitis ref In practice, the distinction between lymphadenopathy and lymphadenitis is rarely made. Inflammation of lymph channel s is called lymphangitis . ref DorlandsDict five 000061959 lymphangitis ref Types File Dermatopathic lymphadenopathy low mag.jpg thumb Micrograph of dermatopathic lymphadenopathy , a type of lymphadenopathy. H&E stain . Localized lymphadenopathy due to localized spot of infection e.g. an infected spot on the scalp will cause lymph nodes in the neck on that same side to swell up Generalized lymphadenopathy due to generalized infection all over the body e.g. influenza persistent generalized lymphadenopathy PGL persisting for a long time, possibly without an apparent cause Dermatopathic lymphadenopathy lymphadenopathy associated with skin disease. Tangier disease ABCA1 deficiency may also cause this Cause Enlarged lymph nodes are a common symptom in a number of infectious and malignant diseases. It is a recognized symptom of very many diseases, of which some are as follows Reactive acute infection e.g. bacterial , or virus viral , or chronic infections tuberculous lymphadenitis , cat scratch disease . The most distinctive symptom of bubonic plague is extreme swelling of one or more lymph nodes that bulge out of the skin as buboes. The buboes often become necrotic and ma ... more details
interaction interact with ABCA1 , ref name pmid12084722 cite journal last Fitzgerald first Michael ... of ABCA1 can disrupt its direct interaction with apolipoprotein A I journal J. Biol. Chem. volume 277 ... more details
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 Jan. 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 Jun. title Centrosome protein centrin 2 caltractin 1 is part of the xeroderma pigme ... more details
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