Gene: [19q132/APOC2] apolipoprotein C-II (lipoprotein lipase activator); lipase D activator (apolipoprotein C-II); hyperlipoproteinemia, type I-B (C-II anapolipoproteinemia);
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PRO |
Probe name: Vector Site Insert(kb) Reference
[1] NJ3.6: pKT218 PstI 0.44 Humphries-1983 [2] ApoCII cDNA: pBR329 EcoRI 0.4 Frossard-1986 [3] pSCII: pUC8 EcoRI 0.4 Humphries-1984; Wallis-1984 [4] pCII-711: pKT218 PstI 0.5 Jackson-1984 [5] ApoCII cDNA: pAT153-8 PvuII 0.489 Sharpe-1984 [6] |
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POL |
Enzyme Alleles in kb/(Popul Freq) Const Bands in kb
(Reference; Probe number)
[1] TaqI A1= 3.8/(0.56); A2= 3.5/(0.44); (Frossard-1987; Humphries-1983; Schellenberg-1987 Smit-1988; Williams-1985; Probes 1,2,3 and 4) [2] BglI B1= 12.0/(0.47); B2= 9.0/(0.53); (Ball-1985; Schellenberg-1987; Wallis-1984; Probe 3) [3] NcoI C1= 11.5/(0.70); C2= 14.5/(0.30); (Frossard-1986; Probe 2) [4] BanI D1= 2.6/(0.66); D2= 1.2/(0.34); (Frossard-1987; Schellenberg-1987; Probe 2) [5] AvaII E1= 0.6/(0.55); E2= 0.4/(0.45); CBs= 1.4+0.25 (Korneluk-1987; Probe 5) [6] PCR-amplification G1= 0.165/(0.01); G2= 0.159/(0.03); (Weber-1989a; Weber-1989b; Probe 6) G3= 0.157/(0.04); G4= 0.155/(0.15); G5= 0.153/(0.15); G6= 0.151/(0.34); G7= 0.149/(0.03); G8= 0.147/(0.02); G9= 0.145/(0.01); G10= 0.137/(0.11); G11= 0.129/(0.12)" |
|
GEN |
The gene length is 3.32 kb (Wei-1985) or 3.338 kb (Fojo-1987). Exons: 4; introns: 3." |
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LIN |
Loci: GEM:19q132/LU; GEM:19q133/FUT2.
[1] APOC2 is tightly linked with LU (Donald-1985). [2] APOC2 is tightly linked with FUT2 (Donald-1985)." |
|
MAP |
Loci: GEM:19q132/APOE; GEM:19q132/APOC1; GEM:19q132/APOC1P1;
GEM:19q131/RYR1; GEM:19q133/CKM; GEM:19q133/DMPK;
GEM:19q132/ATP1A3; GEM:19q134/PRKCG; GEM:19q132/CYP2A6;
GEM:19q132/BCL3.
[1] c-[48kb]-APOE-[4.3kb]-APOC1-[6kb]-APOC1P1-[22kb]-APOC2-qt (Smit-1988). [2] See GEM:19q131/RYR1. [3] See GEM:19q134/PRKCG." |
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REF |
PAT,PHE,MEB "Baggio &: J Clin Invest, 77, 520-527, 1986 POL,MOL "Ball &: Ann Hum Genet, 49, 129-134, 1985 HIS,PAT,FOG,TER "Breckenridge &: New Engl J Med, 298, 1265-1273, 1978 MUT,MOL,PAT "Connelly &: PNAS, 84, N1, 270-273, 1987 MUT,MOL,PAT "Cox &: J Med Genet, 25, 649-652, 1988 HIS,PAT,FOG,TER "Cox &: New Engl J Med, 299, 1421-1424, 1978 GEN,SEQ,EAG "Das HK &: JBC, 262, N10, 4787-4793, 1987 LOC,LIN,POL,MOL "Donald JA &: Hum Genet, 69, 39-43, 1985 PAT,PHE,MEB "Fojo SS &: BBRC, 154, N1, 73-79, 1988 GEN,SEQ,EAG "Fojo SS &: FEBS Lett, 213, 221-226, 1987 LOC,LIN,POL "Fojo SS &: BBRC, 122, 687-693, 1984a PRO "Fojo SS &: BBRC, 124, 308-313, 1984b PRO,CLO,SEQ,EXP "Fojo SS &: PNAS, 81, 6354-6357, 1984c POL,MOL "Frossard PM &: Gene, 51, 103-106, 1987 CLO,PRO,POL "Frossard PM &: NAR, 14, 5120, 1986 PEP,SEQ,MOP,FUN "Hospattankar AV &: JBC, 259, 318-322, 1984 PRO,LOC,LIN,FAG "Humphries SE &: Clin Genet, 26, 389-396, 1984a PRO,LOC,LIN,FAG "Humphries SE &: Hum Genet, 67, 151-155, 1984b PRO,POL,MOL "Humphries SE &: Mol Biol Med, 1, 463-471, 1983 PRO,CLO,SEQ,LOC,EXP "Jackson CL &: PNAS, 81, 2945-2949, 1984 PEP,SEQ,MOP,FUN "Jackson RL &: PNAS, 74, 1942-1945, 1977 PRO,LOC,LIN,FAG "Jeanpierre M &: Somat Cell Mol Genet, 10, 645-649, 1984 LOC,LIN,POL,MOL "Johnson &: CCG, 46, (HGM9), 634-635, 1987 PEP,SEQ,MOP,FUN "Kinnunen &: PNAS, 74, 4848-4851, 1977 POL,MOL "Korneluk RG &: NAR, 15, N16, 6769, 1987 LIN,MAP "Lewis &: Ann Hum Genet, 52, 137-144, 1988 MEB,FUN "McKeone &: Biochemistry, 27, N12, 4500-4505, 1988 LOC,LIN,POL "Myklebost O &: Hum Genet, 67, 309-312, 1984a PRO,CLO,SEQ,EXP "Myklebost O &: JBC, 259, 4401-4404, 1984b PAT,PHE,MEB "Ohno &: Eur J Pediatr, 148, 550-552, 1989 LIN,MAP "Pericak-Vance MA &: Neurology, 36, 1418-1423, 1986 CLO,PRO,LOC,MAP,FAG "Sakaguchi &: AJHG, 36, 207S, 1984 LOC,LIN,POL,MOL "Schellenberg GD &: J Neurogenet, 4, 97-108, 1987 MUT,PHE,POG,FAG "Sepehrnia &: AJHG, 43, 847-853, 1988 PRO,CLO,SEQ,EXP,FAG "Sharpe CR &: NAR, 12, N9, 3917-3932, 1984 LOC,LIN,POL "Shaw DJ &: Hum Genet, 74, 262-266, 1986a LOC,LIN,POL "Shaw DJ &: Hum Genet, 74, 267-269, 1986b LOC,LIN "Shaw DJ &: Hum Genet, 70, 271-273, 1985 LIN,MAP,POL "Smeets H &: CCG, 51, (HGM10), 1081, 1989 LOC,LIN,MAF,POL,FAG "Smit M &: Hum Genet, 78, N1, 90-93, 1988a MUT,PHE,POG,FAG "Smit M &: Hum Hered, 38, 277-282, 1988b LIN,MAP "Stallings RL &: AJHG, 43, 144-151, 1988 POL,MOL "Wallis SC &: Hum Genet, 68, 286-289, 1984 PRO,POL,MOL,MET "Weber JL &: AJHG, 44, 388-396, 1989a POL,MOL "Weber JL &: CCG, 51, (HGM10), 1103-1104, 1989b GEN,SEQ,EAG "Wei CF &: JBC, 260, N28, 15211-15221, 1985 PRI,CLO,EVO "Whitted &: Mol Cell Biochem, 90, 69-79, 1989 POL,MOL,POG "Williams LG &: Hum Genet, 71, 227-230, 1985 HIS,PAT,FOG,TER "Yamamura &: Atherosclerosis, 34, 53-65, 1979 |
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KEY |
ats, card, lip, mtbd |
|
CLA |
coding, basic |
|
LOC |
19 q13.2 |
|
MIM |
MIM: 207750 |
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