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GENATLAS PHENOTYPE

last update : 08-07-2009

Symbol	GAN
Location	16q23.2
Name	giant axonal neuropathy
Corresponding gene	GAN
related resource	Mutation Database of Inherited Peripheral Neuropathies
Other symbol(s)	GAN1
Main clinical features	generalized intermediate filament disorganization characterized by the development of severe childhood sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, with mental retardation, kinky or curly hair, skeletal abnormalities, severe course with a life expectancy of less than 30 years, but milder forms are observed cytopathologically, giant axons with derangements of cytoskeletal components; massive disorganization of intermediate filaments (IFs) both in neurons and many non-neuronal cells (Cleveland 2009)
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	gigaxonin (GAN)

Remark(s)