Gene: [21q211/APP] amyloid beta (A4) precursor plaque core protein (cerebral vascular); protease nexin II; Alzheimer disease 1 (MIM:104300); angiopathy, amyloid, congophylic? (cerebral hemorrhage, Dutch type); [CVAP BAP ]
COM | Jenkins-1988 subdivided the region q21 into more subsegments than the standard nomenclature did and indicated the location of APP to an accuracy of q21.05." |
EXP | Six isoforms (APP395, APP563, APP695, APP714, APP751, APP770) are produced by alternative splicing of a 19-exon gene (exons 1-13, 13a, and 14-18)." |
FAG | A single-stranded probe for the APP gene recognizes (in situ hybridization on chromosomes) an additional weak signal in the short arm of chr 20. Previously the gene for scrapie infection protein (prion) gene was localized to the same region (GEM:20p1/PRNP)." |
FUN | Oltersdorf-1989 showed an identity of APP and protease nexin II. |
CAG | About other Alzheimer disease susceptibility loci see GEM:19q132/AD2, GEM:14q243/PSEN1; GEM:01q/PSEN2; GEM:12^/AD5." |
PAT | This protein, as a basic component of the core zone of senile plaques (in the brain) is probably involved in the pathogenesis of both normal aging (e.g., in the case of kongophilic amyloid angiopathy manifesting itself as vascular types of senile dementia or so called multi-infarct dementia) and pathological aging, including presenile Pick's and Alzheimer's diseases (as well as senile dementia of Alzheimer's type). However, the precise mechanisms of this gene participation in the above processes remain unclear." |
HET | A locus for liability to atrophic dementia of Alzheimer's type has been suggested (see GEM:17q21/MAPT)." |
REL | GEM:09q3/APPL1. |
REF | EXP "Anderson &: Brain
Res, 478, 391-398, 1989 MUT "Balbin M &: Hum Genet, 89, 580-582, 1992 LOC,PRO "Blanquet V &: Ann Genet, 30, N2, 68-69, 1987a LOC,PRO "Blanquet V &: CCG, 46, (HGM9), 582, 1987b MUT "Chartier-Harlin M-C &: Nature, 353, 844-846, 1991 MUT "Citron M &: PNAS, 91, 11993-11997, 1994 MUT "Citron M &: Nature, 360, 672-674, 1992 EXP "Cohen &: PNAS, 85, N4, 1227-1231, 1988 LOC,PRO "Delabar JM &: Science, 235, (13 Mar), 1390-1392, 1987 IDN,PEP,MOP,SEQ "Dyrks &: EMBO J, 7, N4, 949-957, 1987 MUT "Farlow M &: Neurology, 44, 105-111, 1994 MUT "Fernandez-Madrid I &: Ann Neurol, 30, 730-733, 1991 POL,MOL "Furuya H &: BBRC, 150, N1, 75-81, 1988 EXP "Gandy &: PNAS, 85, N16, 6218-6221, 1988 IDN,PEP,MOP,SEQ "Glenner GG, Wong: BBRC, 120, N3, 885-890, 1984a IDN,PEP,MOP,SEQ "Glenner GG, Wong: BBRC, 122, N3, 1131-1135, 1984b MUT "Goate A &: Nature, 349, 704-706, 1991 LOC,LIN,MOL "Goate A &: CCG, 51, (HGM10), 1006, 1989a LOC,LIN,MOL "Goate A &: J Med Genet, 26, N9, 595, 1989b LOC,PRO "Golgaber &: Science, 235, 877-880, 1987 IDN,PEP,MOP,SEQ "Guiroy &: PNAS, 84, N7, 2073-2077, 1987 MUT "Haass C &: Nature Med, 1, 1291-1296, 1995 LOC,LIN,MOL "Haines &: CCG, 46, (HGM9), 625, 1987 PAT "Hart &: Am J Pathol, 132, N1, 167-172, 1988 MUT "Hendriks L &: Nature Genet, 1, 218-221, 1992 EXP "Higgins &: PNAS, 85, N4, 1297-1301, 1988 LOC,PRO "Jenkins &: BBRC, 151, N1, 1-8, 1988 MUT "Kamino K &: AJHG, 51, 998-1014, 1992 PRO,SEQ,EXP "Kang J &: Nature, 325, (19 Feb), 733-736, 1987 MUT "Karlinsky H &: Neurology, 42, 1445-1453, 1992 PRO,EVO,PEP,MOP "Kitaguchi N &: Nature, 331, N6156, 530-531, 1988 PRO,SEQ,GEN,EXP "Lemaire HG &: NAR, 17, N2, 517-522, 1989 EXP "Lewis &: PNAS, 85, N5, 1691-1695, 1988 EXP "Marotta &: PNAS, 86, N1, 337-341, 1989 IDN,PEP,MOP,SEQ "Masters &: PNAS, 82, N12, 4245-4249, 1985 MUT "Mullan M &: Nature Genet, 1, 345-347, 1992 FUN "Multhaup G &: Science, 271, 1406-1409, 1996 MUT "Murrell J &: Science, 254, 97-99, 1991 MUT "Naruse S &: Lancet, 337, 978-979, 1991 FUN "Oltersdorf T &: Nature, 341, 144-147, 1989 PRO,SEQ,EXP "Pardridge WM &: J Neurochem, 49, 1394-1401, 1987 MUT "Peacock ML &: Ann Neurol, 35, 432-438, 1994 PRO,EVO,PEP,MOP "Ponte P &: Nature, 331, N6156, 525-527, 1988 LOC,MAP "Pulst &: CCG, 51, (HGM10), 1061-1062, 1989 PRO,SEQ,EXP "Robakis NK &: PNAS, 84, N12, 4190-4194, 1987a PRO,SEQ,EXP "Robakis NK &: PNAS, 84, (correction), N20, 7221, 1987b LOC,PRO "Robakis NK &: Lancet, 1, (Feb 14), 384-385, 1987c IDN,PEP,MOP,SEQ "Roher A &: PNAS, 83, N8, 2662-2666, 1986 POL,MOL "Sasaki H &: NAR, 15, N15, 6309, 1987 FUN "Schmaier AH &: J Clin Invest, 92, 2540-2545, 1993 PRO,SEQ,EXP "Schon EA &: NAR, 16, 9351, 1988 LOC,LIN,MOL "St George-Hyslop PH &: Science, 235, 885-890, 1987 MUT "Suzuki N &: Science, 264, 1336-1340, 1994 MUT "Tanzi RE &: AJHG, 51, 273-282, 1992 PRO,EVO,PEP,MOP "Tanzi RE &: Nature, 331, N6156, 528-530, 1988 LOC,LIN,MOL "Tanzi RE &: CCG, 46, (HGM9), 703, 1987a LOC,LIN "Tanzi RE &: Nature, 329, (10 Sep), 156-157, 1987b POL,MOL "Taylor JE &: NAR, 16, N13, 6259, 1988a POL,MOL "Taylor JE &: NAR, 16, N14, 7217, 1988b LOC,LIN "Van Broeckhoven C &: CCG, 46, (HGM9), 708, 1987a LOC,LIN "Van Broeckhoven C &: Nature, 329, (10 Sep), 153-155, 1987b IDN,PEP,MOP,SEQ "Van Nostrand WE, Cunningham DD: JBC, 262, 8508-8514, 1987 PRO,SEQ,EXP "Vitek &: Mol Brain Res, 4, 121-131, 1988 IDN,PEP,MOP,SEQ "Wong &: PNAS, 82, N24, 8729-8732, 1985 PRO,EXP,EVO,PEP,MOP "Yamada &: Gerontology, 37, (Suppl 1), 24-30, 1991 MUT "Yamatsuji T &: Science, 272, 1349-1352, 1996 GEN,MOP,EXP "Yoshikai S-I &: Gene, 87, 257-263, 1990 MUT "Yoshioka K &: BBRC, 178, 1141-1146, 1991 LOC,PRO "Zabel &: CCG, 46, (HGM9), 725-726, 1987 PRO,SEQ,EXP "Zain SB &: PNAS, 85, N3, 929-933, 1988 MUT "Zeldenrust SR &: J Med Genet, 30, 476-478, 1993 |
SWI | SWISSPROT: P05067 |
KEY | mem, neu |
CLA | coding, basic |
LOC | 21 q21.1 |
MIM | MIM: 104760 |
SYN | CVAP BAP |
Ссылки:
- Болезнь Альцгеймера: роль генетических факторов, общие сведения
- APP-Ген (предшественника бета-амилоида, ПБА)
- Болезнь Альцгеймера: молекулярная модель
- Гены пресенилинов: экспрессия
- Gene: [04q2/SNCA] synuclein, alpha (non A4 component of amyloid precursor); Parkinson disease, familial 1 (MIM:601508); [NACP PD1 ]
