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What does GAN stand for?

GAN stands for Giant Axon Neuropathy


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About GAN Giant Axonal Neuropathy (GAN) is a recessively inherited condition that results in progressive nerve death. As of Jan. 2012, GAN is believed to be a loss of function disorder,
giant axonal neuropathy a familial disease of German shepherd dogs, characterized by ataxia, hypotonia, reduced pain sensation, and loss of reflexes and proprioception in the hindlegs, which develops from a young age. Vomiting, associated with esophageal dilatation, also occurs.
Dominant mutations in NEFL, the gene encoding the light subunit of neurofilament, cause an axonal neuropathy. Recessive mutations in the gene encoding gigaxonin cause giant axonal neuropathy, a syndrome affecting both PNS and CNS neurons. Gigaxonin binds to a microtubule-associated protein (MAP-1B-LC), and stabilizes microtubules, thereby promoting their axonal transport. A dominant mutation in the gene encoding kinesin KIF1Bb, which transports synaptic vesicles to the axon terminals, causes an inherited axonal neuropathy.