🧬 基因注释：UBE3A

官方名称：ubiquitin protein ligase E3A

功能摘要：This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008].

• Tardbp 综合评分: 0.462 · 证据 1 条
• Srsf3 综合评分: 0.424 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.398 · 证据 1 条
• HNRNPK 综合评分: 0.398 · 证据 2 条
• PTBP1 综合评分: 0.398 · 证据 2 条
• fus 综合评分: 0.398 · 证据 1 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• EWSR1 综合评分: 0.348 · 证据 2 条
• PCBP2 综合评分: 0.344 · 证据 1 条
• FUBP1 综合评分: 0.312 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM39 综合评分: 0.312 · 证据 2 条
• CELF2 综合评分: 0.310 · 证据 2 条

该基因暂无关联疾病记录