Gene
pnpla1
- ID
- ZDB-GENE-140912-3
- Name
- patatin-like phospholipase domain containing 1
- Symbol
- pnpla1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 10. Orthologous to human PNPLA1 (patatin like phospholipase domain containing 1).
- Genome Resources
-
- Alliance (1)
- Gene:101885488 (1)
- 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 |
|---|---|---|---|
| autosomal recessive congenital ichthyosis 10 | Alliance | Ichthyosis, congenital, autosomal recessive 10 | 615024 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Acyl transferase/acyl hydrolase/lysophospholipase | Patatin-like phospholipase domain | Patatin-like phospholipase domain-containing protein |
|---|---|---|---|---|
|
UniProtKB:A0A8M9P5A9
|
406 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance