🧬 基因注释：SCN1A
官方名称：sodium voltage-gated channel alpha subunit 1
功能摘要：Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015].
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPU 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- Nova2 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- SF3A3 置信度: 1.0
- Srsf1 置信度: 1.0
- Tardbp 置信度: 1.0
该基因暂无关联疾病记录