🧬 基因注释：GABRB3
官方名称：gamma-aminobutyric acid type A receptor subunit beta3
功能摘要：This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013].
- CELF2 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
该基因暂无关联疾病记录