Spatacsin (IPR028103)

Short name: Spatacsin

Family relationships



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 [PMID: 17322883]. 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 [PMID: 21545838].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.