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GENATLAS PHENOTYPE

last update : 12-12-2013

Symbol	ALS19
Location	2q34
Name	amyotrophic lateral sclerosis 19
Corresponding gene	ERBB4
Main clinical features	relatively slowly progressive upper and lower motor neuron involvement without cognitive impairment
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

mutations led to a reduced autophosphorylation of ErbB4 upon neuregulin-1 (NRG-1) stimulation (PMID: 24119685))