RETREG1, Official Symbol RETREG1provided by HGNC Official Full Name reticulophagy regulator 1provided by HGNC Primary source HGNC:HGNC:25964 See related Ensembl:ENSG00000154153 MIM:613114; AllianceGenome:HGNC:25964 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JK1; JK-1; FAM134B 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] Expression Broad expression in heart (RPKM 29.0), brain (RPKM 19.9) and 20 other tissues See more Orthologs mouse all