Gene
pigt
- ID
- ZDB-GENE-090313-46
- Name
- phosphatidylinositol glycan anchor biosynthesis, class T
- Symbol
- pigt Nomenclature History
- Previous Names
-
- si:ch211-153a8.2
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to contribute to GPI-anchor transamidase activity. Involved in gastrulation. Predicted to localize to GPI-anchor transamidase complex. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 3 and paroxysmal nocturnal hemoglobinuria. Orthologous to human PIGT (phosphatidylinositol glycan anchor biosynthesis class T).
- 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
- 2 figures from Kvarnung et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple congenital anomalies-hypotonia-seizures syndrome 3 | Alliance | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 |
| paroxysmal nocturnal hemoglobinuria | Alliance | ?Paroxysmal nocturnal hemoglobinuria 2 | 615399 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007245 | GPI transamidase component PIG-T |
Domain Details Per Protein
| Protein | Length | GPI transamidase component PIG-T |
|---|---|---|
|
UniProtKB:A0A8M9PWR4
|
634 | |
|
UniProtKB:A0A2R8Q264
|
634 |
Interactions and Pathways
No data available
Plasmids
No data available