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GENATLAS PHENOTYPE

last update : 30-08-2012

Symbol	ALS2
Location	2q33.1
HGNC id	443
Name	familial amyotrophic lateral sclerosis
Corresponding gene	ALS2
Other symbol(s)	JALS, RFALS3
Main clinical features	neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis juvenile type, in North African and Middle Eastern countries, not in Japanese people
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name

alsin

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other		abnormal protein/loss of function	protein with guanine-nucleotide exchange factor (GEF) domains

Remark(s)