C222453Level 4
PRX wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PRX wild-type allele is located in the vicinity of 19q13.2 and is approximately 21 kb in length. This allele, which encodes periaxin protein, is involved in the maintenance of the lens of the eye and axonal myelin sheaths. Mutations in the gene are associated with Charcot-Marie-Tooth disease types 3 (Dejerine-Sottas) and 4F.
**Synonyms:** - CMT4F - KIAA1620 - Periaxin wt Allele
GET
/api/v1/systems/nci_thesaurus/nodes/C222453Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.