基因名:
Reep1
产品别名:
D6Ertd253e; Reep1; receptor accessory protein 1; receptor accessory protein 1; receptor expression-enhancing protein 1; 受体辅助蛋白1;
背景信息:
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.