A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760.


We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.

Publication types

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

MeSH terms

  • Base Sequence
  • Cloning, Molecular
  • Female
  • Humans
  • Huntington Disease / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Trinucleotide Repeats*


  • Membrane Proteins
  • junctophilin

Associated data

  • GENBANK/AF429315