Gene Symbol | REEP1 |
Entrez Gene ID | 65055 |
Full Name | receptor accessory protein 1 |
Synonyms | C2orf23,HMN5B,SPG31,Yip2a |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 31, autosomal dominant, 610250 (3); ?Neuronopathy, distal hereditary motor, type VB, 614751 (3) |