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

Смотрите также:

  • Болезнь Альцгеймера: роль генетических факторов: введение
  • 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 ]