SPG11
SPG11 vesicle trafficking associated, spatacsin
Normal Function
Health Conditions Related to Genetic Changes
Spastic paraplegia type 11
More than 65 mutations in the SPG11 gene have been found to cause spastic paraplegia type 11. Most of these mutations change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.
More About This Health ConditionRelated Conditions
Spastic paraplegia type 11Amyotrophic lateral sclerosisCharcot-Marie-Tooth disease
Health Conditions Related to Genetic Changes
More than 65 mutations in the SPG11 gene have been found to cause spastic paraplegia type 11. Most of these mutations change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.
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MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease