" /> PHYH wt Allele - CISMeF





Preferred Label : PHYH wt Allele;

NCIt synonyms : Phytanoyl-CoA 2 Oxoglutarate Dioxygenase Gene; LN1; RD; Phytanoyl-CoA Hydroxylase Gene; LNAP1, Mouse, Homolog of Gene; Phytanoyl-CoA Dioxygenase Gene; LNAP1; Refsum Disease Gene; PAHX; Phytanoil-CoA Alpha Hydroxylase Gene; Phytanoyl-CoA 2-Hydroxylase wt Allele; PHYH1; Phytanoyl-CoA Hydroxylase (Refsum Disease) Gene;

NCIt 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.;

NCI Metathesaurus CUI : CL1926587;

GenBank Accession Number : NM_001037537;

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07/05/2025


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