| Protein Name | reticulophagy regulator 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 54463 |
| Gene Symbol | RETREG1 |
| UniProt | Q9H6L5 (RETR1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
21
Total Number of Articles : 17 |
Description |
reticulophagy regulator 1 |
| Gene 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] |
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| Properties | |