Gene
nhsa
- ID
- ZDB-GENE-090617-1
- Name
- Nance-Horan syndrome a (congenital cataracts and dental anomalies)
- Symbol
- nhsa Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to be involved in cell differentiation and lens development in camera-type eye. Is expressed in central nervous system and somite. 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
- 1 figure from Walsh et al., 2011
- 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 |
1 - 2 of 2
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR024845 | Actin remodeling regulator NHS-like |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Actin remodeling regulator NHS-like |
|---|---|---|---|
| UniProtKB:A0A8M9PX19 | InterPro | 1525 | |
| UniProtKB:A0A8M9PTR0 | InterPro | 1467 | |
| UniProtKB:A0A8M9PLD5 | InterPro | 1546 | |
| UniProtKB:A0A8M1QKA2 | InterPro | 1530 |
1 - 4 of 4
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available