Human Gene PHYH (ENST00000263038.9) Description and Page Index

Description: Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. (from RefSeq NM_006214)
Gencode Transcript: ENST00000263038.9
Gencode Gene: ENSG00000107537.14
Transcript (Including UTRs)
Position: hg38 chr10:13,277,799-13,300,064 Size: 22,266 Total Exon Count: 9 Strand: -
Coding Region
Position: hg38 chr10:13,278,301-13,300,042 Size: 21,742 Coding Exon Count: 9

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: PAHX_HUMAN DESCRIPTION: RecName: Full=Phytanoyl-CoA dioxygenase, peroxisomal; EC=1.14.11.18; AltName: Full=Phytanic acid oxidase; AltName: Full=Phytanoyl-CoA alpha-hydroxylase; Short=PhyH; Flags: Precursor; FUNCTION: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. CATALYTIC ACTIVITY: Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2- hydroxyphytanoyl-CoA + succinate + CO(2). COFACTOR: Iron. COFACTOR: Ascorbate. PATHWAY: Lipid metabolism; fatty acid metabolism. SUBUNIT: Interacts specifically with the immunophilin FKBP52 and PHYHIP. INTERACTION: Q9UNS2:COPS3; NbExp=1; IntAct=EBI-721853, EBI-350590; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-721853, EBI-1054904; SUBCELLULAR LOCATION: Peroxisome. TISSUE SPECIFICITY: Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. DISEASE: Defects in PHYH are a cause of Refsum disease (RD) [MIM:266500]. RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. SIMILARITY: Belongs to the PhyH family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHYH";

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR008775 - Phytyl_CoA_dOase

Pfam Domains:
PF05721 - Phytanoyl-CoA dioxygenase (PhyH)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2A1X - X-ray

ModBase Predicted Comparative 3D Structure on O14832


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