Name:SPAStin (human neurodegeneration-associated AAA ATPase) related 1
Synonyms:C24B5.2, CELE_C24B5.2, C. elegans spastin
Source:WB:WBGene00016045
Biotype:protein coding gene
Symbol:spas-1 (Cel)
Symbol:spas-1
Gene Synopsis:spas-1 is an ortholog of human SPAST (spastin); spas-1 is involved in microtubule depolymerization, microtubule...severing, oogenesis, protein homooligomerization and vulval development; spas-1 exhibits microtubule...binding activity and microtubule-severing ATPase activity; epidermal expression of SPAS-1 triggers mild...effects on embryonic elongation, which are dramatically enhanced by let-502 weak loss of function; spas...-1 is expressed throughout the body including the gonad, intestine, and the vulva; spas-1 is localized
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.