Gene
porcn
- ID
- ZDB-GENE-081105-87
- Name
- porcupine O-acyltransferase
- Symbol
- porcn Nomenclature History
- Previous Names
-
- porcn1 (1)
- si:ch211-216k22.9
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Involved in Wnt protein secretion; convergent extension involved in gastrulation; and protein lipidation. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in focal dermal hypoplasia. Is expressed in diencephalon; hindbrain; neural tube; spinal cord neural tube; and telencephalon. Orthologous to human PORCN (porcupine O-acyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Chen et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chen et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
focal dermal hypoplasia | Alliance | Focal dermal hypoplasia | 305600 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Lysophospholipid acyltransferase 7/Porcupine-like | Membrane bound O-acyl transferase, MBOAT |
---|---|---|---|
UniProtKB:A0A8M3B1X0
|
461 | ||
UniProtKB:B0S7W7
|
442 |
Interactions and Pathways
No data available
Plasmids
No data available