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FLASH GENE

Symbol

REEP2

contributors: shn/mct - updated : 25-02-2014

HGNC name	receptor accessory protein 2
HGNC id	17975

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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