C201200Level 5
FXN wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human FXN wild-type allele is located in the vicinity of 9q21.11 and is approximately 43 kb in length. This allele, which encodes frataxin, mitochondrial protein, plays a role in transport and storage of iron and the assembly of iron-sulfur clusters. Expansion of the intronic trinucleotide repeat GAA from 8-33 repeats to more than 90 repeats is associated with Friedreich ataxia.
**Synonyms:** - CyaY - FA - FARR - FRDA - Frataxin wt Allele - Friedreich Ataxia Gene - X25
GET
/api/v1/systems/nci_thesaurus/nodes/C201200Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.