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Browse result for Giant axonal neuropathy

※ introduction

    Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair.

Reference
Wiki: Giant axonal neuropathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07798Q5TAQ950717
DCAF8
DDB1- and CUL4-associated factor 8
Homo sapiens
PTMD12683Q9H2C08139
GAN
Gigaxonin
Homo sapiens