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GENATLAS PHENOTYPE

last update : 25-02-2014

Symbol	SPG72
Location	5q31.2
HGNC id	17975
Name	Spastic Paraplegia 72
Corresponding gene	REEP2
Other symbol(s)	REEP2
Main clinical features	pure hereditary spastic paraplegia phenotype; spastic gait and mild stiffness at rest, sphincter disturbance, slight postural tremor, and decreased vibration sense PMID:24388663
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	receptor accessory protein 2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		other	c.107T>A; p.Val36Glu (dominant-negative effect) PMID:24388663
missense		abnormal protein/loss of function	c.215T>A; p.Phe72Tyr PMID:24388663
abnormal splicing		abnormal protein/loss of function	c.105+3G>T PMID:24388663

Remark(s)