Entity Details

Primary name PAHX_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14832
EntryNamePAHX_HUMAN
FullNamePhytanoyl-CoA dioxygenase, peroxisomal
TaxID9606
Evidenceevidence at protein level
Length338
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesPHYH

GO terms

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GOName
GO:0001561 fatty acid alpha-oxidation
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0006103 2-oxoglutarate metabolic process
GO:0006720 isoprenoid metabolic process
GO:0008104 protein localization
GO:0008198 ferrous iron binding
GO:0019606 2-oxobutyrate catabolic process
GO:0031406 carboxylic acid binding
GO:0031418 L-ascorbic acid binding
GO:0048244 phytanoyl-CoA dioxygenase activity
GO:0097089 methyl-branched fatty acid metabolic process
GO:0097731 9+0 non-motile cilium

Subcellular Location

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Subcellular Location
Peroxisome

Domains

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DomainNameCategoryType
IPR008775 Phytanoyl-CoA dioxygenaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
266500 OMIMRefsum disease (RD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00025 Antihemophilic factor, human recombinantDrugbankbiotech
DB00126 Ascorbic acidDrugbanksmall molecule
DB13998 Lonoctocog alfaDrugbankbiotech
DB13999 Moroctocog alfaDrugbankbiotech