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GENATLAS PHENOTYPE

last update : 06-07-2022

Symbol	AOA2
Location	9q34.13
Name	ataxia-ocular apraxia 2, early onset
Other name(s)	spinocerebellar ataxia, recessive, non-Friedreich type 1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Corresponding gene	SETX
Other symbol(s)	SCAR1, SCAN2
Main clinical features	characterized by oculo-motor apraxia, progressive ataxia, with cerebellar atrophia, choreoathetosis, sensory loss, absence of tendon reflexes, pyramidal weakness with/without mental retardation associated with an axonal motor neuropathy, an hypoalbuminemia and elevated alpha-fetoprotein
Genetic determination	autosomal recessive
Function/system disorder	neurology
	eye
Type	disease

Gene product

Name	transcriptional transactivator SETX1

Remark(s)

AOA2 cells exhibited constitutive oxidative DNA damage and enhanced chromosomal instability in response to H2O2 (Suraweera 2007)