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FAM134B

Official Full Name
reticulophagy regulator 1
Organism
Homo sapiens
GeneID
54463
Background
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Synonyms
RETREG1; JK1; JK-1; FAM134B;

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