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
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
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nhsa Human Ortholog
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
Associated With nhsa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR024845 Nance-Horan syndrome protein family
Domain Details Per Protein
Protein Length Nance-Horan syndrome protein family
UniProtKB:G4V2U9 256
UniProtKB:E7FBZ1 1259
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations