Gene
arxb
- ID
- ZDB-GENE-121109-2
- Name
- aristaless related homeobox b
- Symbol
- arxb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Predicted to be involved in multicellular organism development and regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Partington syndrome; early infantile epileptic encephalopathy 1; lissencephaly; non-syndromic X-linked intellectual disability; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ARX (aristaless related homeobox).
- 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 |
|---|---|---|---|
| corpus callosum agenesis-abnormal genitalia syndrome | Alliance | Proud syndrome | 300004 |
| developmental and epileptic encephalopathy 1 | Alliance | Developmental and epileptic encephalopathy 1 | 308350 |
| non-syndromic X-linked intellectual disability ARX-related | Alliance | Intellectual developmental disorder, X-linked 29 | 300419 |
| Partington syndrome | Alliance | Partington syndrome | 309510 |
| X-linked lissencephaly 2 | Alliance | Hydranencephaly with abnormal genitalia | 300215 |
| X-linked lissencephaly 2 | Alliance | Lissencephaly, X-linked 2 | 300215 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0G2KXF6
|
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available