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. Human ortholog(s) of this gene implicated in Nance-Horan syndrome and cataract 40. Is expressed in central nervous system and somite. 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 |
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:A0A8M9PX19
|
1525 | |
|
UniProtKB:A0A8M9PTR0
|
1467 | |
|
UniProtKB:A0A8M9PLD5
|
1546 | |
|
UniProtKB:A0A8M1QKA2
|
1530 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available