REEP1

Chr 2

receptor accessory protein 1

Also known as: C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a

NCBI Gene: 65055 ENSG00000068615 UniProt: Q9H902

The protein is required for endoplasmic reticulum network formation and shaping, linking ER tubules to the cytoskeleton and playing a role in long-term axonal maintenance. Mutations cause autosomal dominant spastic paraplegia 31 and both autosomal dominant and recessive forms of distal hereditary motor neuronopathy. The gene is highly constrained against loss-of-function variants, reflecting its essential cellular role.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 31, autosomal dominant

UniProtNeuronopathy, distal hereditary motor, autosomal dominant 12

UniProtNeuronopathy, distal hereditary motor, autosomal recessive 6

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — REEP1