Aliases for SPG11 Gene
External Ids for SPG11 Gene
Previous HGNC Symbols for SPG11 Gene
Previous GeneCards Identifiers for SPG11 Gene
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]
GeneCards Summary for SPG11 Gene
SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin) is a Protein Coding gene. Diseases associated with SPG11 include Spastic Paraplegia 11, Autosomal Recessive and Charcot-Marie-Tooth Disease, Axonal, Type 2X.
UniProtKB/Swiss-Prot Summary for SPG11 Gene
May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.