Back to discover

PHYH

Gene

phytanoyl-CoA 2-hydroxylase

HGNCHGNC:8940EnsemblENSG00000107537NCBI Gene5264
Locus: gene with protein productLocation: 10p13

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asPAHX · RD · PHYH1
View full nomenclature history (7)
Alias symbolsPAHX, RD, PHYH1
Previous namesphytanoyl-CoA hydroxylase (Refsum disease), phytanoyl-CoA hydroxylase
Alias namesRefsum disease, phytanoyl-CoA dioxygenase

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Retinitis Pigmentosa
Genetic Diseases, Inborn
Eye Diseases
Alcohol drinking
Vibrio Infections

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Iron (II) and 2-oxoglutarate dependent oxygenases

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.