Gene
mtpap
- ID
- ZDB-GENE-101208-3
- Name
- mitochondrial poly(A) polymerase
- Symbol
- mtpap Nomenclature History
- Previous Names
-
- TUTase 1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in spastic ataxia 4. Is expressed in head; ovary; and testis. Orthologous to human MTPAP (mitochondrial poly(A) polymerase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- 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 |
---|---|---|---|
spastic ataxia 4 | Alliance | ?Spastic ataxia 4, autosomal recessive | 613672 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Nucleotidyltransferase superfamily | PAP/25A-associated | RL domain |
---|---|---|---|---|
UniProtKB:E7FEW2
|
600 |
Interactions and Pathways
No data available
Plasmids
No data available