spastic paraplegia 11 (autosomal recessive)
Symbol
SPG11
(may also be known as: None)
Organism
Human
Description
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Orthologs
| Symbol | Species | |
|---|---|---|
| CG13531 | Drosophila melanogaster | |
| spg11 | Danio rerio | |
| Spg11 | Mus musculus | |
| Spg11 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0008219 | cell death | biological_process | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005730 | nucleolus | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0005886 | plasma membrane | cellular_component | |
| GO:0016021 | integral to membrane | cellular_component | |
| GO:0005515 | protein binding | molecular_function | |