Gene: [11q233/APOA1] apolipoprotein A-I; amyloidosis IV, Iowa type (van Allen type); amyloidosis VIII (systemic nonneuropathic, Ostertag type, German type; MIM:105200); hypoalphalipoproteinemia, primary;
HET | On other types of familial amyloidotic polyneuropathy (those related with thyroxine-binding prealbumin (transthyretin), see GEM:18q121/PALB." |
HIS | MIM assigned amyloidosis IV (Iowa type) to locus APOA1 (a mutant variant 26-Gly --> Arg; see MIM:107680.0010)." |
REF | MUT "Booth DR &: J
Clin Invest, 97, N12, 2714-2721, 1996 CLO,SEQ,EXP "Breslow JL &: PNAS, 79, 6861-6865, 1982 PEP,SEQ "Brewer HB &: BBRC, 80, 623-630, 1978 FUN,PAT "Dallinga-Thie GM &: J Clin Invest, 99, N5, 953-961, 1997 MUT "Nakata K &: BBRC, 196, 950-955, 1993 MUT "Ng DS &: J Clin Invest, 93, 223-229, 1994 FUN "Plump AS &: J Clin Invest, 97, N11, 2660-2671, 1996 MUT "Romling R &: Arteriosclerosis Thromb, 14, N12, 1915-1922, 1994 MUT "Soutar AK &: PNAS, 89, 7389-7393, 1992 |
SWI | SWISSPROT: P02647 |
KEY | ats, card, lip |
CLA | coding, basic |
LOC | 11 q23.3 |
MIM | MIM: 107680 |
Ссылки:
- Ген аполипопротеина AI человека: cтроение регуляторных районов
- Ген Apo AII: полиморфизм
- COUP-TF
- Ген апо AII: расположение и мутации
- RAR и RXR: Регуляция генов липидного метаболизма
- Гены липидного метаболизма: Блочность строения регуляторных зон
- Гены липидного метаболизма: сайты связывания транскрипционных факторов
- Гены, ответственные за возникновение гиперлипопротеинемии
- Gene: [03q2/APOD] apolipoprotein D;
- Gene: [16q13/CETP] cholesteryl ester transfer protein, plasma;
- Gene: [08p21/CLU] clusterin (complement lysis inhibitor, SP-40,40, apolipoprotein J); sulfated glycoprotein 2 (testosterone-repressed prostate message 2); [CLI SGP-2]
- Gene: [17q2/APOH] apolipoprotein H (beta-2-glycoprotein I); [B2G1 ]
- Gene: [12^/APOF] apolipoprotein F;
- Gene: [15q26/TFCOUP2] transcription factor COUP 2 (chicken ovalbumin upstream promoter 2); apolipoprotein regulatory protein 1; [ARP1 ]
