RETREG1

Chr 5

reticulophagy regulator 1

Also known as: FAM134B, JK-1, JK1

NCBI Gene: 54463 ENSG00000154153 UniProt: Q9H6L5

The protein is an endoplasmic reticulum-anchored autophagy regulator that mediates ER delivery into lysosomes and is required for long-term survival of nociceptive and autonomic ganglion neurons. Mutations cause hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), which affects sensory and autonomic nervous systems. The inheritance pattern is autosomal recessive.

GeneReviews ResearchSummary from RefSeq, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuropathy, hereditary sensory and autonomic, 2B

Clinical highlights

Gene-disease validity (ClinGen)

hereditary sensory and autonomic neuropathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

LOF

Mechanism· G2P

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GeneReview available — RETREG1