Predicted to enable protein kinase binding activity. Acts upstream of or within several processes, including axonogenesis; cholesterol efflux; and transport along microtubule. Located in several cellular components, including axon; cytosol; and dendrite. Is active in endoplasmic reticulum. Used to study hereditary spastic paraplegia 11. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2X; amyotrophic lateral sclerosis type 5; and hereditary spastic paraplegia 11. Orthologous to human SPG11 (SPG11 vesicle trafficking associated, spatacsin).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]