The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that it may help control the activity of particular genes (gene expression) or play a role in the transport (trafficking) of proteins. Spatacsin may also be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system.
Other Names
FLJ21439; KIAA1840; spastic paraplegia 11 (autosomal recessive); SPATACSIN; SPTCS_HUMAN
Related Genetics Topics
- Amyotrophic lateral sclerosis — MedlinePlus Genetics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Spastic paraplegia type 11 — MedlinePlus Genetics
Identifiers
- NCBI Gene: 80208
- OMIM: 610844
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
