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Description for Protein PHYH

phytanoyl-CoA 2-hydroxylase
10 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.14.11.18
KEGG - Orthology:
K00477
KEGG - Pathway(s):
hsa04146
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
PAHX; Phytanic acid oxidase; PHYH1; LN1; LNAP1; RD; Phytanoil CoA alpha hydroxylase; Phytanoyl CoA 2 oxoglutarate dioxygenase; Phytanoyl CoA alpha hydroxylase; Phytanoyl CoA dioxygenase, peroxisomal; Phytanoyl CoA 2 hydroxylase; Phytanoyl CoA 2 hydroxylase isoform a precursor; Phytanoyl CoA 2 hydroxylase isoform b precursor; EC 1.14.11.18; PhyH
Approved Symbol:
PHYH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Antihemophilic Factor(db);
  • Vitamin C(db)

    Associated Genetic Diseases:

  • Refsum disease(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03609 Entrez Gene ID: 5264 OMIM ID: 602026 Swissprot Accession: A8MTS8; O14832;