REEP2 explained

Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.[1] [2]

Function

The protein encoded by REEP2 belongs to a family of proteins with receptor enhancing expression capabilities, including possible enhancement of G protein-coupled receptors.[3] The REEP2 protein shows a restricted mode of expression in human tissues.[4]

Clinical significance

REEP2 mutations have been reported in families with hereditary spastic paraplegia.[5]

Further reading

Notes and References

  1. Clark. Adrian J.L.. Metherell. Louise A.. Cheetham. Michael E.. Huebner. Angela. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends in Endocrinology & Metabolism. 16. 10. 451–457. 10.1016/j.tem.2005.10.006. 16271481. 2005. 27450434.
  2. Saito. Harumi. Kubota. Momoka. Roberts. Richard W.. Chi. Qiuyi. Matsunami. Hiroaki. RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors. Cell. 119. 5. 679–691. 10.1016/j.cell.2004.11.021. 2004. 15550249. 13555927. free.
  3. Björk. Susann. Hurt. Carl M.. Ho. Vincent K.. Angelotti. Timothy. 2013-12-17. Correction: REEPs Are Membrane Shaping Adapter Proteins That Modulate Specific G Protein-Coupled Receptor Trafficking by Affecting ER Cargo Capacity. PLOS ONE. 8. 12. 10.1371/annotation/6f86410c-63c3-4fcd-b1cb-9fd8d2ea95d0. 10.1371/annotation/6f86410c-63c3-4fcd-b1cb-9fd8d2ea95d0. 1932-6203. 3867549 . free .
  4. Uhlén. Mathias. Fagerberg. Linn. Hallström. Björn M.. Lindskog. Cecilia. Oksvold. Per. Mardinoglu. Adil. Sivertsson. Åsa. Kampf. Caroline. Sjöstedt. Evelina. 2015-01-23. Tissue-based map of the human proteome. Science. en. 347. 6220. 1260419. 10.1126/science.1260419. 0036-8075. 25613900. 802377.
  5. Esteves. Typhaine. Durr. Alexandra. Mundwiller. Emeline. Loureiro. José L.. Boutry. Maxime. Gonzalez. Michael A.. Gauthier. Julie. El-Hachimi. Khalid H.. Depienne. Christel. Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia. The American Journal of Human Genetics. 94. 2. 268–277. 10.1016/j.ajhg.2013.12.005. 24388663. 3928657. 2014.