Gene
nhsb
- ID
- ZDB-GENE-090617-2
- Name
- Nance-Horan syndrome b (congenital cataracts and dental anomalies)
- Symbol
- nhsb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to be involved in cell differentiation. Human ortholog(s) of this gene implicated in Nance-Horan syndrome and cataract 40. Orthologous to human NHS (NHS actin remodeling regulator).
- 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 |
|---|---|---|---|
| cataract 40 | Alliance | Cataract 40, X-linked | 302200 |
| Nance-Horan syndrome | Alliance | Nance-Horan syndrome | 302350 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR024845 | Actin remodeling regulator NHS-like |
Domain Details Per Protein
| Protein | Length | Actin remodeling regulator NHS-like |
|---|---|---|
|
UniProtKB:A0A8M3BDS0
|
1623 | |
|
UniProtKB:A0A8M3AXS7
|
1624 | |
|
UniProtKB:A0A8M9PVJ7
|
1630 | |
|
UniProtKB:A0A8M9QM22
|
1542 | |
|
UniProtKB:A0A8M9Q7R9
|
1615 | |
|
UniProtKB:A0A8M9QDP4
|
1594 | |
|
UniProtKB:A0A8M3AXP9
|
1609 |
Interactions and Pathways
No data available
Plasmids
No data available