🧬 基因注释：CACNB4
官方名称：calcium voltage-gated channel auxiliary subunit beta 4
功能摘要：This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016].
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP1 置信度: 2.0
- FUBP3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- KHSRP 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
该基因暂无关联疾病记录