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phytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase; phyH (PHYH, PAHX)
Function:
- converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA
- lipid metabolism; fatty acid metabolism
- interacts specifically with the immunophilin FKBP52 & PHYHIP
phytanoyl-CoA + 2-oxoglutarate + O2 = 2-hydroxyphytanoyl-CoA + succinate + CO2
Cofactor:
- iron, ascorbate
Structure: belongs to the phyH family
Compartment: peroxisome
Expression:
- expressed in liver, kidney, & T-cells
- not expressed in spleen, brain, heart, lung & skeletal muscle
Pathology:
- defects in PHYH are a cause of Refsum disease
Laboratory:
- phytanoyl CoA hydroxlase in fibroblasts
General
oxidoreductase
Properties
SIZE: entity length = 338 aa
MW = 39 kD
COMPARTMENT: peroxisome
MOTIF: binding site
SITE: 120-120
FOR-BINDING-OF: Alpha-ketoglutarate
binding site
SITE: 157-157
FOR-BINDING-OF: Alpha-ketoglutarate
active site
Alpha-ketoglutarate binding {175-177}
MOTIF: Iron [Fe]-binding site
SITE: 175-175
Iron [Fe]-binding site
SITE: 177-177
binding site
SITE: 193-193
FOR-BINDING-OF: Alpha-ketoglutarate
Iron [Fe]-binding site
SITE: 264-264
binding site
SITE: 266-266
FOR-BINDING-OF: Alpha-ketoglutarate
binding site
SITE: 275-275
FOR-BINDING-OF: Alpha-ketoglutarate
Database Correlations
OMIM correlations
MORBIDMAP 602026
UniProt O14832
Pfam PF05721
Entrez Gene 5264
Kegg hsa:5264
ENZYME 1.14.11.18
References
- UniProt :accession O14832
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PHYH