Protein Domain : Spatacsin IPR028103

Type  Family
Description  Defects in the spatacsin gene are the cause of spastic paraplegia 11, a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs [ ]. Human and rat spacticin protein has been shown to be expressed in the central nervous system, particularly in cortical and spinal motor neurons as well as in retina [].
Short Name  Spatacsin
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0 Child Features

1 Gene Families

Trail: ProteinDomain

117 Genes

Trail: ProteinDomain

0 Ontology Annotations

0 Parent Features

14 Publications

Trail: ProteinDomain
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