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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))