C208014Level 5
SPAST wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SPAST wild-type allele is located in the vicinity of 2p22.3 and is approximately 94 kb in length. This allele, which encodes spastin protein, plays a role in the stimulation of microtubule reorganization. Mutations in the gene are associated with autosomal dominant spastic paraplegia 4.
**Synonyms:** - ADPSP - FSP2 - KIAA1083 - SPG4 - Spastic Paraplegia 4 (Autosomal Dominant; Spastin) Gene - Spastin wt Allele
GET
/api/v1/systems/nci_thesaurus/nodes/C208014Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.