PHYH Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PHYH |
| Official Name | phytanoyl-CoA 2-hydroxylase [Source:HGNC Symbol;Acc:HGNC:8940] |
| Ensembl ID | ENSG00000107537 |
| Bio databases IDs | |
| Aliases | phytanoyl-CoA 2-hydroxylase, Refsum disease, phytanoyl-CoA dioxygenase |
| Synonyms | LN1, LNAP1, PAHX, PHYH1, phytanoyl-CoA 2-hydroxylase, Phytanoyl-coa hydroxy, phytanoyl-CoA hydroxylase, RD, RDPA |
| Species | Human, Homo sapiens |
| 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 human 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 human 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