Aliases for REEP1 Gene
External Ids for REEP1 Gene
Previous HGNC Symbols for REEP1 Gene
Previous GeneCards Identifiers for REEP1 Gene
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]
GeneCards Summary for REEP1 Gene
REEP1 (Receptor Accessory Protein 1) is a Protein Coding gene. Diseases associated with REEP1 include Spastic Paraplegia 31, Autosomal Dominant and Neuronopathy, Distal Hereditary Motor, Type Vb. Among its related pathways are Signaling by GPCR and Olfactory Signaling Pathway. GO annotations related to this gene include microtubule binding and olfactory receptor binding. An important paralog of this gene is REEP2.
UniProtKB/Swiss-Prot for REEP1 Gene
Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229).