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  • Human FGD4 wild-type allele is located in the vicinity of 12p11.21 and is approximately 246 kb in length. This allele, which encodes FYVE, RhoGEF and PH domain-containing protein 4, is involved in regulation of the actin cytoskeleton and cell shape. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 4H (CMT4H).
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