Description
Product Characteristics:
Transport of G protein-coupled receptors (GPCRs) to the cell surface membrane is critical for receptor-ligand recognition. Mammalian GPCR odorant receptors (ORs), when heterologously expressed in cells, are poorly expressed on the cell surface. REEP1 (receptor expression-enhancing protein 1), is a 201 amino acid multi-pass mitochondrion membrane protein that belongs to the DP1 family. REEP1 interacts with odorant receptor proteins and may enhance the cell surface expression of odorant receptors. Mutations in the REEP1 gene are the third most common cause of hereditary spastic paraplegia (HSP) after spastin and atlastin gene mutations. Mutations in the REEP1 gene also cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. The REEP1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana and rice, and maps to human chromosome 2p11.2.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: C2orf23, Chromosome 2 open reading frame 23, FLJ13110, Receptor accessory protein 1, Receptor expression-enhancing protein 1, Reep1, REEP1_HUMAN, SPG31.
Target Information: 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]