Gene
p4hb
- ID
- ZDB-GENE-080610-1
- Name
- prolyl 4-hydroxylase, beta polypeptide
- Symbol
- p4hb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to several human genes including P4HB (prolyl 4-hydroxylase subunit beta).
- 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 |
|---|---|---|---|
| Cole-Carpenter syndrome | Alliance | Cole-Carpenter syndrome 1 | 112240 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Protein disulfide-isomerase, thioredoxin-like domain | Protein disulphide isomerase | Thioredoxin, conserved site | Thioredoxin domain | Thioredoxin-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IPV5
|
509 |
Interactions and Pathways
No data available
Plasmids
No data available