PHYH wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PHYH wild-type allele is located in the vicinity of 10p13 and is approximately 25 kb in length. This allele, which encodes phytanoyl-CoA dioxygenase, peroxisomal protein, plays a role in the 2-hydroxylation of various acyl-CoA fatty acid esters. Mutation of the gene is associated with classic Refsum disease.
**Synonyms:** - LN1 - LNAP1 - LNAP1, Mouse, Homolog of Gene - PAHX - PHYH1 - Phytanoil-CoA Alpha Hydroxylase Gene - Phytanoyl-CoA 2 Oxoglutarate Dioxygenase Gene - Phytanoyl-CoA 2-Hydroxylase wt Allele - Phytanoyl-CoA Dioxygenase Gene - Phytanoyl-CoA Hydroxylase (Refsum Disease) Gene - Phytanoyl-CoA Hydroxylase Gene - RD - Refsum Disease Gene
/api/v1/systems/nci_thesaurus/nodes/C204485Hierarchy Explorer
Cross-system equivalences0
No cross-system equivalences mapped for this node.