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FLASH GENE
Symbol REEP2 contributors: shn/mct - updated : 25-02-2014
HGNC name receptor accessory protein 2
HGNC id 17975
ASSOCIATED DISORDERS
corresponding disease(s) SPG72
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Downregulation of endogenously expressed REEP2 in the chemosensory enteroendocrine GLUTag cell line dramatically reduced sensitivity of endogenous sweet receptors
  • the p.Val36Glu variant has a dominant-negative effect and inhibited the normal binding of wild-type REEP2 to membranes, and the p.Phe72Tyrdecreased the affinity of the mutant protein for membranes
  • REEP2 downregulation leads to expansion of ER sheets in COS7 cells