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

Kurth I., Pamminger T., Hennings J. C. , Soehendra D., Huebner A. K. , Rotthier A., ...Daha Fazla

NATURE GENETICS, cilt.41, sa.11, ss.1179-1181, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 41 Konu: 11
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1038/ng.464
  • Sayfa Sayıları: ss.1179-1181


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.