receptor accessory protein 1
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The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in nerve cells (neurons) in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport.
Normal function
The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in nerve cells (neurons) in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport.
The REEP1 protein plays a role in forming the network of tubules that make up the structure of the endoplasmic reticulum, regulating its size and determining how many proteins it can process. As part of its role in the endoplasmic reticulum, the REEP1 protein enhances the activity of certain other proteins called G protein-coupled receptors. These receptor proteins are eventually embedded within the outer membrane of cells, where they relay chemical signals from outside the cell to the interior of the cell.
The function of the REEP1 protein in the mitochondria is unknown.
Conditions referring to this gene or chromosome
Altri nomi
C2orf23
FLJ13110
receptor expression-enhancing protein 1
REEP1_HUMAN
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Ulteriori letture e riferimenti
- receptor accessory protein 1; MedlinePlus, National Library of Medicine.
- Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.
- Bjork S, Hurt CM, Ho VK, Angelotti T. REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. PLoS One. 2013 Oct 2;8(10):e76366. doi: 10.1371/journal.pone.0076366. eCollection 2013.
- Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Sole G, Coupry I, Pilliod J, Martin-Negrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.
- Hurt CM, Bjork S, Ho VK, Gilsbach R, Hein L, Angelotti T. REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues. Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16.
- Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 2008 Jul 21;9:71. doi: 10.1186/1471-2350-9-71.
- Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 May 26.
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