🧬 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].

• HNRNPM 综合评分: 0.350 · 证据 2 条
• ELAVL3 综合评分: 0.322 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• Tardbp 综合评分: 0.294 · 证据 1 条
• GRSF1 综合评分: 0.274 · 证据 2 条
• NOVA1 综合评分: 0.262 · 证据 2 条
• Ptbp2 综合评分: 0.262 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• Nova2 综合评分: 0.200 · 证据 1 条
• CELF2 综合评分: 0.150 · 证据 2 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• Srsf2 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录