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.
Immunogen Information
Immunogen
Fusion protein of human RETREG1
Swissprot
Q9H6L5
Synonyms
F134BFAM134Bfamily with sequence similarity 134 member BHSAN2BJK 1JK1Protein FAM134B