Phyh Gene Summary [Mouse]
Enables catalytic activity. Acts upstream of or within fatty acid alpha-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; liver; and respiratory system. Used to study Refsum disease. Human ortholog(s) of this gene implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease. Orthologous to human PHYH (phytanoyl-CoA 2-hydroxylase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Phyh |
| Official Name | phytanoyl-CoA hydroxylase [Source:MGI Symbol;Acc:MGI:891978] |
| Ensembl ID | ENSMUSG00000026664 |
| Bio databases IDs | |
| Aliases | phytanoyl-CoA hydroxylase |
| Synonyms | LN1, LNAP1, PAHX, PHYH1, phytanoyl-CoA 2-hydroxylase, Phytanoyl-coa hydroxy, phytanoyl-CoA hydroxylase, RD, RDPA |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Phyh often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- vitamin binding
- peroxisome targeting signal 2
- binding protein
- monosaccharide binding
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Phytanoyl-CoA dioxygenase (PhyH)
- phytanoyl-CoA dioxygenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinitis pigmentosa
- Refsum disease
- nonsyndromic cleft lip and palate
- androgenic alopecia
- retinal dystrophy
- hereditary disorder
- ataxia
- microvesicular hepatic steatosis
- PHYH deficiency
- non-small cell lung carcinoma
regulates
- cholesterol
- 2-oxoglutaric acid
- amylase
- (±)-3-methylhexadecanoyl-coenzyme A
- fatty acid
- alpha hydroxy acyl coenzyme a
- (±)-5-phenyl-3-methylpentanoyl-coenzyme A
- (S)-3-methylhexadecanoyl coenzyme A
- triacylglycerol
- phytanic acid
role in cell
- function
- loss
- number
- action potential
- hydroxylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- peroxisomal matrix
- non-motile cilium
- cytosol
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Phyh gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- methyl-branched fatty acid metabolic process
- 2-oxobutyrate catabolic process
- fatty acid alpha-oxidation
- 2-oxoglutarate metabolic process
- isoprenoid metabolic process
Cellular Component
Where in the cell the gene product is active
- peroxisome
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- carboxylic acid binding
- L-ascorbic acid binding
- protein binding
- ferrous iron binding
- phytanoyl-CoA dioxygenase activity