Gene
phyh
- ID
- ZDB-GENE-050417-361
- Name
- phytanoyl-CoA 2-hydroxylase
- Symbol
- phyh Nomenclature History
- Previous Names
-
- zgc:110203
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have phytanoyl-CoA dioxygenase activity. Predicted to be involved in fatty acid alpha-oxidation. Human ortholog(s) of this gene implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease. Is expressed in intestinal bulb and liver. Orthologous to human PHYH (phytanoyl-CoA 2-hydroxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110203 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Refsum disease | Alliance | Refsum disease | 266500 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Phytanoyl-CoA dioxygenase | Phytanoyl-CoA dioxygenase-like |
|---|---|---|---|
|
UniProtKB:Q5RHY0
|
335 |
Interactions and Pathways
No data available
Plasmids
No data available