Gene
mthfs
- ID
- ZDB-GENE-130103-5
- Name
- 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
- Symbol
- mthfs Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have 5-formyltetrahydrofolate cyclo-ligase activity. Predicted to be involved in folic acid-containing compound biosynthetic process and tetrahydrofolate interconversion. Predicted to localize to mitochondrion. Orthologous to several human genes including ST20-MTHFS (ST20-MTHFS readthrough).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 618367 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 5-formyltetrahydrofolate cyclo-ligase | 5-formyltetrahydrofolate cyclo-ligase-like domain superfamily | NagB/RpiA transferase-like |
|---|---|---|---|---|
|
UniProtKB:A0A0G2L0J2
|
199 |
Interactions and Pathways
No data available
Plasmids
No data available