REEP1 Chromosome 2
Receptor accessory protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Receptor accessory proteins
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000068615
Associated Conditions (15)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 31
Inborn genetic diseases
REEP1-related disorder
Familial prostate cancer
Neuronopathy
distal hereditary motor
type 5B
Glioma susceptibility 1
Spastic paraplegia
Spinal muscular atrophy
distal
autosomal recessive
6
Charcot-Marie-Tooth disease
Key Variants
RS1266102026
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia 31
Health Risk
RS139808535
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
Health Risk
RS141976852
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia, Hereditary spastic paraplegia 31
Health Risk
RS1444613668
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Inborn genetic diseases, Hereditary spastic paraplegia 31
Health Risk
RS144874997
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Inborn genetic diseases, REEP1-related disorder
Health Risk
RS1675100502
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
Health Risk
RS1676310949
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
Health Risk
RS1677011138
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
Health Risk
RS189652973
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Inborn genetic diseases, Hereditary spastic paraplegia 31
Health Risk
RS201564869
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Neuronopathy, distal hereditary motor
Health Risk
RS2104051740
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS2468842177
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2104225081 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104243887 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104243903 | Health Risk | Pathogenic | — |
| RS2104244362 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104244515 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104244665 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104392639 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104394867 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2104394882 | Health Risk | Pathogenic | — |
| RS2104562914 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Neuronopathy, distal hereditary motor |
| RS2468826102 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468827655 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2468890460 | Health Risk | Pathogenic | — |
| RS2468890730 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468890850 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Spinal muscular atrophy, distal |
| RS2468891033 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468983090 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468983226 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS387906263 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia, Hereditary spastic paraplegia 31 |
| RS387906264 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS387907242 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 5B |
| RS766166355 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS786204081 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS869312880 | Health Risk | Pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS869320621 | Health Risk | Pathogenic | Spinal muscular atrophy, distal, autosomal recessive |
| RS1060503494 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia, Hereditary spastic paraplegia 31 |
| RS1060503496 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS1574077569 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Spastic paraplegia, Hereditary spastic paraplegia |
| RS1677010564 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS1681107508 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Inborn genetic diseases, Hereditary spastic paraplegia 31 |
| RS2468842127 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |