Giant Axonal Neuropathy 1 (GAN1)
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Overview
From WUSTL Neuromuscular33● Epidemiology: > 70 patients Genetics Mutations Bi-allelic loss-of-function Types; Missense; Nonsense; Frameshift; Recurrent uniparental isodisomy > 46 mutations: All regions of gene Founder mutations Mexico: c.851+1G>A Turkey: c.1502+1G>T Few genotype-phenotype corelations Variants Tunisian CMT+ Heterozygotes ? Subclinical polyneuropathy on electrophysiology Gigaxonin protein Subcellular localization: Cytoskeletal Binds to Microtubule-associated protein (MAP) 1B light chain Via kelch domain Associated with microtubules: Stabilizes microtubule network Tissue localization: Ubiquitous express
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.