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GENATLAS PHENOTYPE

last update : 15-11-2016

Symbol	SCAX1
Location	Xq28
HGNC id	2003
Name	X-linked congenital ataxia 1
Other name(s)	non progressive congenital cerebellar hypoplasia olivopontocerebellar atrophy, X-linked
Corresponding gene	ATP2B3
Other symbol(s)	OPCA, NCCH, CLA2
Main clinical features	severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia, and at neuroimaging global cerebellar atrophy kindred from Buryata, Eastern Russia
Genetic determination	sex linked
Function/system disorder	neurology
Type	disease

Remark(s)

. mutation reduced the ability of the ATP2B3 pump to control the cellular homeostasis of Ca2+ (PMID: 22912398))