Tbio PHYH Phytanoyl-CoA dioxygenase, peroxisomal

Protein Summary

Description

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. 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, Jul 2008]

Uniprot Accession IDs

• O14832
• A8MTS8
• B1ALH5

Gene Name

• PHYH

Ensembl ID

• ENST00000263038
• ENSP00000263038
• ENSG00000107537
• ENST00000396913
• ENSP00000380121

Symbol

• PAHX
• RD
• LN1
• PAHX
• LNAP1
• PHYH1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
kinase perturbation	0.98
transcription factor perturbation	0.98
molecular function	0.76
cellular component	0.73

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 449.06   (req: < 5)

Gene RIFs: 8   (req: <= 3)

Antibodies: 392   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 449.06   (req: >= 5)

Gene RIFs: 8   (req: > 3)

Antibodies: 392   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0