Gene
kcnma1b
- ID
- ZDB-GENE-101209-2
- Name
- potassium large conductance calcium-activated channel, subfamily M, alpha member 1b
- Symbol
- kcnma1b Nomenclature History
- Previous Names
-
- slo1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have large conductance calcium-activated potassium channel activity. Involved in response to auditory stimulus. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Alzheimer's disease and idiopathic generalized epilepsy. Orthologous to human KCNMA1 (potassium calcium-activated channel subfamily M alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
paroxysmal nonkinesigenic dyskinesia 3 | Alliance | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 |
Cerebellar atrophy, developmental delay, and seizures | 617643 | ||
Liang-Wang syndrome | 618729 | ||
{Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M9PXE8
|
1107 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance