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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
Reference
Wiki: Giant axonal neuropathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07798 | Q5TAQ9 | 50717 | DCAF8 | DDB1- and CUL4-associated factor 8 | Homo sapiens |
| PTMD12683 | Q9H2C0 | 8139 | GAN | Gigaxonin | Homo sapiens |
