Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
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.
Kurth
Ingo
I
Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. i.kurth@uke.uni-hamburg.de
Pamminger
Torsten
T
Hennings
J Christopher
JC
Soehendra
Désirée
D
Huebner
Antje K
AK
Rotthier
Annelies
A
Baets
Jonathan
J
Senderek
Jan
J
Topaloglu
Haluk
H
Farrell
Sandra A
SA
Nürnberg
Gudrun
G
Nürnberg
Peter
P
De Jonghe
Peter
P
Gal
Andreas
A
Kaether
Christoph
C
Timmerman
Vincent
V
Hübner
Christian A
CA
D000328:Adult; D000818:Animals; D005260:Female; D006056:Golgi Apparatus / Q000378:metabolism*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D034622:RNA Interference
C545052:Fam134b protein, mouse; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C522691:RETREG1 protein, human