Gene Symbol | RETREG1 |
Entrez Gene ID | 54463 |
Full Name | reticulophagy regulator 1 |
Synonyms | FAM134B,JK-1,JK1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) |