2. Academic Validation
  3. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

  • Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464.
Ingo Kurth 1,  Torsten Pamminger,  J Christopher Hennings,  Désirée Soehendra,  Antje K Huebner,  Annelies Rotthier,  Jonathan Baets,  Jan Senderek,  Haluk Topaloglu,  Sandra A Farrell,  Gudrun Nürnberg,  Peter Nürnberg,  Peter De Jonghe,  Andreas Gal,  Christoph Kaether,  Vincent Timmerman,  Christian A Hübner
Affiliations

Affiliation

  • 1 Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. i.kurth@uke.uni-hamburg.de
PMID: 19838196 DOI: 10.1038/ng.464
Abstract

Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II. Fam134b knockdown results in structural alterations of the cis-Golgi compartment and induces Apoptosis in some primary dorsal root ganglion neurons. This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons.

Figures