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

Nat Genet. 1993 Sep;5(1):95-100. doi: 10.1038/ng0993-95.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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*
  • Nerve Tissue Proteins / metabolism
  • Organ Specificity
  • Sequence Alignment
  • Sequence Homology, Amino Acid

Substances

  • APLP1 protein, human
  • APLP2 protein, human
  • Amyloid beta-Protein Precursor
  • Nerve Tissue Proteins
  • GTP-Binding Proteins