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
-
- Alliance (1)
- Gene:798583 (1)
- Note
- None
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Rohmann et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cerebellar atrophy, developmental delay, and seizures | 617643 | ||
| Liang-Wang syndrome | 618729 | ||
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calcium-activated potassium channel Slo-1 | NAD(P)-binding domain superfamily | Potassium channel domain | Regulator of K+ conductance, N-terminal |
|---|---|---|---|---|---|
|
UniProtKB:B7TLZ1
|
206 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available