Gene

Spg11

Species
Mus musculus
Symbol
Spg11
Name
SPG11, spatacsin vesicle trafficking associated
Synonyms
  • 6030465E24Rik
  • C530005A01Rik
Biotype
protein coding gene
Automated Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13650
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
121.89M121.90M121.91M121.92M121.93M121.94M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions