MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002277

UniProt Annotations

Entry Information
Gene Namephytanoyl-CoA 2-hydroxylase
Protein EntryPAHX_HUMAN
UniProt IDO14832
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14832-1; Sequence=Displayed; Name=2; IsoId=O14832-2; Sequence=VSP_046289; Note=No experimental confirmation available. Gene prediction based on EST data.;
Catalytic ActivityPhytanoyl-CoA + 2-oxoglutarate + O(2) = 2- hydroxyphytanoyl-CoA + succinate + CO(2).
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000269|PubMed:16186124};
CofactorName=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000269|PubMed:16186124};
DiseaseRefsum disease (RD) [MIM:266500]: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269|PubMed:10709665, ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:9326939, ECO:0000269|PubMed:9326940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionConverts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.
InteractionQ9UNS2:COPS3; NbExp=1; IntAct=EBI-721853, EBI-350590; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-721853, EBI-1054904;
PathwayLipid metabolism; fatty acid metabolism.
SimilarityBelongs to the PhyH family. {ECO:0000305}.
Subcellular LocationPeroxisome.
SubunitInteracts specifically with the immunophilin FKBP52 and PHYHIP. {ECO:0000269|PubMed:10686344, ECO:0000269|PubMed:16186124}.
Tissue SpecificityExpressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
  logo