Gene
fa2h
- ID
- ZDB-GENE-031219-4
- Name
- fatty acid 2-hydroxylase
- Symbol
- fa2h Nomenclature History
- Previous Names
-
- cb1044 (1)
- zgc:153777
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable fatty acid 2-hydroxylase activity; heme binding activity; and iron ion binding activity. Predicted to be involved in ceramide biosynthetic process. Predicted to act upstream of or within fatty acid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Is expressed in EVL; digestive system; ectoderm; peripheral olfactory organ; and pronephric duct. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 35. Orthologous to human FA2H (fatty acid 2-hydroxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1044 (8 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 |
|---|---|---|---|
| hereditary spastic paraplegia 35 | Alliance | Spastic paraplegia 35, autosomal recessive | 612319 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018506 | Cytochrome b5, heme-binding site |
| Domain | IPR001199 | Cytochrome b5-like heme/steroid binding domain |
| Domain | IPR006694 | Fatty acid hydroxylase |
| Family | IPR014430 | Sterol desaturase Scs7 |
| Family | IPR050668 | Cytochrome b5 |
| Homologous_superfamily | IPR036400 | Cytochrome b5-like heme/steroid binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cytochrome b5 | Cytochrome b5, heme-binding site | Cytochrome b5-like heme/steroid binding domain | Cytochrome b5-like heme/steroid binding domain superfamily | Fatty acid hydroxylase | Sterol desaturase Scs7 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q0P3V8 | InterPro | 102 | ||||||
| UniProtKB:A0AB13ABP4 | InterPro | 377 |
Interactions and Pathways
No data available
Plasmids
No data available