hereditary spastic paraplegia 17

Summary
Synonym
  • SPG17
  • Silver spastic paraplegia syndrome
  • Silver syndrome
  • autosomal dominant spastic paraplegia 17
  • autosomal dominant spastic paraplegia type 17
  • dHMN5B
  • distal hereditary motor neuropathy type 5B
  • spastic paraplegia with amyotrophy of hands and feet
  • spastic paraplegia-amyotrophy of hands and feet
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
Super Class
autosomal dominant disease hereditary spastic paraplegia
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26580 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying 1 entry
Gene ID Gene Symbol Description Source
14705 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying 1 entry
Gene ID Gene Symbol Description Source
361722 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024