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PMID: 8220435 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor.

Nature genetics ·Vol. 5 ·No. 1 ·1993-09-00 ·页码 95-100

Wasco W, Gurubhagavatula S, Paradis MD, Romano DM, Sisodia SS, Hyman BT, Neve RL, Tanzi RE

Abstract

Familial Alzheimer's disease (FAD) is a genetically heterogeneous disorder that includes a rare early-onset form linked to mutations in the amyloid b protein precursor (APP) gene. Clues to the function of APP derive from the recent finding that it is a member of a highly conserved protein family that includes the mammalian amyloid precursor-like protein (APLP1) gene which maps to the same general region of human chromosome 19 linked to late-onset FAD. Here we report the isolation of the human APLP2 gene. We show that APLP2 is a close relative of APP and exhibits a very similar pattern of expression in the brain and throughout the body. Like APP, APLP2 contains a cytoplasmic domain predicted to couple with the GTP-binding protein G(o) indicating that it may be an additional cell surface activator of this G protein.

Related Genes
MeSH 主题词
Alzheimer Disease/genetics Amino Acid Sequence Amyloid beta-Protein Precursor/genetics Brain Chemistry GTP-Binding Proteins/metabolism Gene Expression Regulation Genes Humans Molecular Sequence Data Nerve Tissue Proteins/genetics,metabolism Organ Specificity Sequence Alignment Sequence Homology, Amino Acid
化学物质
APLP1 protein, human APLP2 protein, human Amyloid beta-Protein Precursor Nerve Tissue Proteins GTP-Binding Proteins
作者与单位
共 8 位作者,点击展开单位 / ORCID
Wasco W
Laboratory of Genetics and Aging, Massachusetts General Hospital, Charlestown 02129.
Gurubhagavatula S
Paradis M D
Romano D M
Sisodia S S
Hyman B T
Neve R L
Tanzi R E
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
1993-09-00
页码
95-100
Language
English
Country/Region
United States
NLM ID
9216904
基金资助
NIA NIH HHS · AG08487 · United States
NINDS NIH HHS · NS30428 · United States
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