Gene
lbr
- ID
- ZDB-GENE-030804-11
- Name
- lamin B receptor
- Symbol
- lbr Nomenclature History
- Previous Names
-
- sb:cb406
- wu:fb75h08
- wu:fc47b04
- wu:fd36b07
- zgc:86649
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable Delta14-sterol reductase activity. Acts upstream of or within cell migration involved in gastrulation. Located in nuclear inner membrane. Is expressed in several structures, including hypochord; nervous system; neural plate; optic vesicle; and tail bud. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb406 (13 images)
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 |
|---|---|---|---|
| Greenberg dysplasia | Alliance | Greenberg skeletal dysplasia | 215140 |
| Pelger-Huet anomaly | Alliance | Pelger-Huet anomaly | 169400 |
| Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly | 618019 | ||
| ?Reynolds syndrome | 613471 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Lamin-B receptor of TUDOR domain | Sterol biosynthesis ERG24/DHCR-like | Sterol reductase, conserved site |
|---|---|---|---|---|---|
| UniProtKB:Q6DI34 | InterPro | 619 | |||
| UniProtKB:A0A8M9PP65 | InterPro | 619 |
1 - 2 of 2
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available