| Entrez Gene ID | 3778 |
|---|---|
| Official Gene Symbol | KCNMA1 (GeneCards) |
| Full name | potassium calcium-activated channel subfamily M alpha 1 |
| Location | 10q22.3 |
| Other ids | Vega : OTTHUMG00000018543 MIM : 600150 HGNC : HGNC:6284 Ensembl : ENSG00000156113 |
| Other names | SLO, BKTM, SLO1, hSlo, MaxiK, PNKD3, SAKCA, mSLO1, CADEDS, KCa1.1, SLO-ALPHA, bA205K10.1 |
| Summary | MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14122 | 3778 | KCNMA1 | 10 | 79229189 | 79229189 | Asymptomatic | HiSeq X Ten |
| 14242 | 3778 | KCNMA1 | 10 | 78820646 | 78820646 | Asymptomatic | HiSeq X Ten |
| 14280 | 3778 | KCNMA1 | 10 | 79217813 | 79217813 | Asymptomatic | HiSeq X Ten |
| 14281 | 3778 | KCNMA1 | 10 | 79229806 | 79229806 | Asymptomatic | HiSeq X Ten |
| 14732 | 3778 | KCNMA1 | 10 | 78634838 | 78634838 | Cockayne syndrome | HiSeq X Ten |
| 14733 | 3778 | KCNMA1 | 10 | 78951160 | 78951160 | Cockayne syndrome | HiSeq X Ten |
| 23491 | 3778 | KCNMA1 | 10 | 78828422 | 78828422 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27058 | 3778 | KCNMA1 | 10 | 79143998 | 79143998 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29833 | 3778 | KCNMA1 | 10 | 78870005 | 78870005 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |