PBB geneid 19 ATP binding cassette transporter ABCA1 member 1 of human transporter sub family ABCA , also ... 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 ... web title Entrez Gene ABCA1 ATP binding cassette, sub family A ABC1 , member 1 url http www.ncbi.nlm.nih.gov ... 11264984 doi 10.1097 00041433 200104000 00006 url ref Physiological role ABCA1 mediates the efflux of cholesterol ... Hill ref Factors that act upon the ABCA1 transporter s expression or its posttranslational modification ... Yokoyama S title ABCA1 and biogenesis of HDL journal J. Atheroscler. Thromb. volume 13 issue 1 pages ... and familial high density lipoprotein deficiency. ABCA1 has been shown to be reduced in Tangier ... ref ref name pmid10882340 cite journal author Oram JF, Vaughan AM title ABCA1 mediated transport of cellular ... Interactive pathway map StatinPathway WP430 highlight ABCA1 See also ATP binding cassette transporter Interactions ABCA1 has been shown to Protein protein interaction interact with Apolipoprotein A1 ... Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct ... ABCA1 mediates high affinity uptake of 25 hydroxycholesterol by membrane vesicles and rapid efflux ..., Rhyne J, Zeller K, Miller M title ABCA1 Alabama a novel variant associated with HDL deficiency and premature ... HB, Santamarina Fojo S title Study of ABCA1 function in transgenic mice. journal Arterioscler ... the clinical and biochemical impact of variations in the ABCA1 gene. journal Arterioscler ... doi 10.1007 s00018 005 5125 0 cite journal author Yokoyama S title ABCA1 and biogenesis of HDL ... author Schmitz G, Schambeck CM title Molecular defects in the ABCA1 pathway affect platelet function ... 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 dominance genetics dominant manner. ref OMIM 604091 ref Image Autosomal dominant en.svg 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 Category Lipid metabolism disorders genetic disorder stub ... more details
Refimprove date April 2011 Reverse cholesterol transport is a multi step process resulting in the net movement of cholesterol from peripheral tissues back to the liver via the plasma. ref cite journal last Tall first AR pmid 9519340 title An overview of reverse cholesterol transport. ref 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, with the help of the cholesterol ester transfer protein CETP in exchange for triglycerides, to other lipoprotein s such as Low density lipoprotein LDL and VLDL , and these lipoproteins can be taken up by the liver through its LDL receptor s. ref QJM December 2005 98 12 845 856. doi 10.1093 qjmed hci136. ref 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. References reflist DEFAULTSORT Reverse Cholesterol Transport Category Biochemistry ... more details
JH, et al. title Association studies of cholesterol metabolism genes CH25H, ABCA1 and CH24H in Alzheimer ... metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer s disease in Chinese journal ... more details
Human ABCA1 contains a large amino terminal extracellular domain homologous to an epitope of Sj gren ... lipoprotein generated by ABCA1 and ABCA7 journal J. Lipid Res. volume 46 issue 8 pages 1703 11 year ... 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 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 may eve ... more details
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 cellular lipid efflux journal Arterioscler ... 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
Infobox rfam Name miR 33a image Mir 33 SS.png width caption Conserved secondary structure of miR 33a microRNA precursor Symbol miR 33a AltSymbols mir33a Rfam RF00667 miRBase MI0000091 miRBase family MIPF0000070 RNA type miRNA Tax domain Metazoa GO 0035195 SO 0001244 CAS number EntrezGene 407039 HGNCid 31634 OMIM PDB RefSeq Chromosome 22 Arm q Band 13.2 LocusSupplementaryData Infobox rfam Name miR 33b image width caption Symbol miR 33b AltSymbols mir33b Rfam RF00667 miRBase MI0003646 miRBase family MIPF0000070 RNA type miRNA Tax domain Metazoa GO 0035195 SO 0001244 CAS number EntrezGene 693120 HGNCid 32791 OMIM PDB RefSeq Chromosome 17 Arm Band 13.2 LocusSupplementaryData lowercase miR 33 is a family of microRNA precursors, which are processed by the Dicer enzyme to give mature microRNAs. ref cite journal last Ambros first V year 2001 title microRNAs tiny regulators with great potential journal Cell volume 107 pages 823&ndash 826 pmid 11779458 doi 10.1016 S0092 8674 01 00616 X issue 7 ref miR 33 is found in several animal species, including human s. In some species there is a single member of this family which gives the mature product mir 33. In humans there are two members of this family called mir 33a and mir 33b, which are located in intron ic regions within two gene protein coding genes for Sterol regulatory element binding protein s SREBP 2 and SREBP 1 respectively. ref name Naj11 cite journal last Najafi Shoushtari first SH title MicroRNAs in cardiometabolic disease. journal Current atherosclerosis reports date 2011 Jun volume 13 issue 3 pages 202 7 pmid 21461683 doi 10.1007 s11883 011 0179 y ref Function miR 33 plays a role in lipid metabolism it downregulates a number of ABC transporter s, including ABCA1 and ABCG1 , which in turn regulate cholesterol and High density lipoprotein HDL generation. ref cite journal last Fern ndez Hernando first C coauthors Su rez, Y, Rayner, KJ, Moore, KJ title MicroRNAs in lipid metabolism. journal Current opinion in lipidology ... more details
repressor of ATP binding cassette transporter A1 ABCA1 and ABCG1 gene expression and a modulator ... induces expression of ABCA1 but not ABCG1 via an LXR independent pathway journal J. Lipid Res ... more details
PBB geneid 6645 Beta 2 syntrophin is a protein that in humans is encoded by the SNTB2 gene . ref name pmid8576247 cite journal author Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM title The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives journal J Biol Chem volume 271 issue 5 pages 2724 30 year 1996 month Mar pmid 8576247 pmc doi 10.1074 jbc.271.5.2724 ref ref name pmid8183929 cite journal author Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM title Cloning of human basic A1, a distinct 59 kDa dystrophin associated protein encoded on chromosome 8q23 24 journal Proc Natl Acad Sci U S A volume 91 issue 10 pages 4446 50 year 1994 month Jun pmid 8183929 pmc 43802 doi 10.1073 pnas.91.10.4446 ref ref name entrez cite web title Entrez Gene SNTB2 syntrophin, beta 2 dystrophin associated protein A1, 59kDa, basic component 2 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 6645 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 Dystrophin is a large, rod like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes. ref name entrez Interactions SNTB2 has been shown to Protein protein interaction interact with ABCA1 . ref name pmid12054535 cite journal last Buechler first Christa authorlink coauthors Boettcher Alfred, Bared Salim Maa, Probst Mario C O, Schmitz Gerd year 2002 month May. title The car ... more details
interaction interact with ABCA1 , ref name pmid12084722 cite journal last Fitzgerald first Michael ... loops of ABCA1 can disrupt its direct interaction with apolipoprotein A I journal J. Biol. Chem. volume ... more details
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